TaoMedAI/RareMedData huggingface dataset:
Gene: RAD51C
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD51C
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51C
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: RAD51D
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD51D
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD51D
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD51D
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD51D
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD51D
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAD51D
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: RAF1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Severe sensorineural hearing impairment (HP:0008625)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RAF1
Phenotype: Nevus (HP:0003764)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Nevus (HP:0003764)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Seizure (HP:0001250)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Hypospadias (HP:0000047)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEOPARD SYNDROME 2 (OMIM:611554)
Gene: RAF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1NN (OMIM:615916)
Gene: RAF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: RAF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1NN (OMIM:615916)
Gene: RAF1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: LEOPARD SYNDROME 2 (OMIM:611554)
Gene: RAF1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Wide mouth (HP:0000154)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Freckling (HP:0001480)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RAF1
Phenotype: Bundle branch block (HP:0011710)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: RAF1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1NN (OMIM:615916)
Gene: RAF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Curly hair (HP:0002212)
Associated disease: LEOPARD SYNDROME 2 (OMIM:611554)
Gene: RAF1
Phenotype: Curly hair (HP:0002212)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Fine hair (HP:0002213)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Coarse hair (HP:0002208)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Scapular winging (HP:0003691)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Headache (HP:0002315)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: LEOPARD SYNDROME 2 (OMIM:611554)
Gene: RAF1
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1NN (OMIM:615916)
Gene: RAF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: RAF1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Blue irides (HP:0000635)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1NN (OMIM:615916)
Gene: RAF1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Short stature (HP:0004322)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Short stature (HP:0004322)
Associated disease: LEOPARD SYNDROME 2 (OMIM:611554)
Gene: RAF1
Phenotype: Short stature (HP:0004322)
Associated disease: NOONAN SYNDROME 5 (OMIM:611553)
Gene: RAF1
Phenotype: Short stature (HP:0004322)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: CARDIOMYOPATHY, DILATED, 1NN (OMIM:615916)
Gene: RAF1
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Congenital giant melanocytic nevus (HP:0005600)
Associated disease: Large/giant congenital pigmented nevus; Large/giant CMN syndrome; Large/giant congenital melanocytic nevus; LGCMN (ORPHA:626)
Gene: RAF1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAF1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LEOPARD syndrome; Noonan syndrome with multiple lentigines; Familial multiple lentigines syndrome; Cardiomyopathic lentiginosis (ORPHA:500)
Gene: RAF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RAF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: LEOPARD SYNDROME 2 (OMIM:611554)