TaoMedAI/RareMedData huggingface dataset:
Gene: AXIN2
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: AXIN2-related attenuated familial adenomatous polyposis; AXIN2-related attenuated FAP; AXIN2-related attenuated familial polyposis coli; AXIN2-related AFAP (ORPHA:401911)
Gene: AXIN2
Phenotype: Short eyelashes (HP:0010764)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AXIN2
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Oligodontia (HP:0000677)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Colon cancer (HP:0003003)
Associated disease: AXIN2-related attenuated familial adenomatous polyposis; AXIN2-related attenuated FAP; AXIN2-related attenuated familial polyposis coli; AXIN2-related AFAP (ORPHA:401911)
Gene: AXIN2
Phenotype: Colon cancer (HP:0003003)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: AXIN2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: AXIN2-related attenuated familial adenomatous polyposis; AXIN2-related attenuated FAP; AXIN2-related attenuated familial polyposis coli; AXIN2-related AFAP (ORPHA:401911)
Gene: AXIN2
Phenotype: Sparse hair (HP:0008070)
Associated disease: AXIN2-related attenuated familial adenomatous polyposis; AXIN2-related attenuated FAP; AXIN2-related attenuated familial polyposis coli; AXIN2-related AFAP (ORPHA:401911)
Gene: AXIN2
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AXIN2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: AXIN2-related attenuated familial adenomatous polyposis; AXIN2-related attenuated FAP; AXIN2-related attenuated familial polyposis coli; AXIN2-related AFAP (ORPHA:401911)
Gene: AXIN2
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: OLIGODONTIA-COLORECTAL CANCER SYNDROME (OMIM:608615)
Gene: AXIN2
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: AXIN2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AXIN2
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: AXIN2
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AXIN2
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AXIN2
Phenotype: Abnormal odontoid tissue morphology (HP:3000050)
Associated disease: AXIN2-related attenuated familial adenomatous polyposis; AXIN2-related attenuated FAP; AXIN2-related attenuated familial polyposis coli; AXIN2-related AFAP (ORPHA:401911)
Gene: AXIN2
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: BAP1
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Zonular cataract (HP:0010920)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Motor delay (HP:0001270)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Seizure (HP:0001250)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Obstruction of the superior vena cava (HP:0031041)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Ciliary body melanoma (HP:0012055)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Choroidal melanoma (HP:0012054)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 (OMIM:606661)
Gene: BAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Abnormal lung morphology (HP:0002088)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Middle age onset (HP:0003596)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Late onset (HP:0003584)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Adult onset (HP:0003581)
Associated disease: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 (OMIM:606661)
Gene: BAP1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Chest pain (HP:0100749)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Fourth cranial nerve palsy (HP:0007011)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Ocular pain (HP:0200026)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Abnormal fundus morphology (HP:0001098)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Inferior lens subluxation (HP:0008494)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Cough (HP:0012735)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Malignant mesothelioma (HP:0100001)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Mydriasis (HP:0011499)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Photopsia (HP:0030786)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Iris melanoma (HP:0011524)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Abnormal visual accommodation (HP:0030800)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Uveal melanoma (HP:0007716)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Uveal melanoma (HP:0007716)
Associated disease: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 (OMIM:606661)
Gene: BAP1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Alopecia (HP:0001596)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: High palate (HP:0000218)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Meningioma (HP:0002858)
Associated disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Gene: BAP1
Phenotype: Triangular mouth (HP:0000207)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Growth delay (HP:0001510)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Abnormal cardiovascular system physiology (HP:0011025)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: High myopia (HP:0011003)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Astigmatism (HP:0000483)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Strabismus (HP:0000486)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Short neck (HP:0000470)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: BAP1
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Weight loss (HP:0001824)
Associated disease: Pleural mesothelioma (ORPHA:50251)
Gene: BAP1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Ptosis (HP:0000508)
Associated disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Gene: BAP1
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: BAP1
Phenotype: Visual loss (HP:0000572)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: BAP1
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Melanoma of uvea; Uveal melanoma; Melanoma of choroid; Choroidal and ciliary body melanomas; Choroid melanoma (ORPHA:39044)
Gene: CDC45
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)