TaoMedAI/RareMedData huggingface dataset:
Gene: AKT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AKT1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Blindness (HP:0000618)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Focal T2 hypointense thalamic lesion (HP:0012691)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: AKT1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: AKT1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Cachexia (HP:0004326)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Impotence (HP:0000802)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Spinal meningioma (HP:0100010)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Intracranial meningioma (HP:0100009)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Venous malformation (HP:0012721)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Venous malformation (HP:0012721)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal kinetic perimetry test (HP:0030591)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Thrombophlebitis (HP:0004418)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Ear pain (HP:0030766)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Verrucous epidermal nevus (HP:0034275)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Progressive macrocephaly (HP:0004481)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Exostosis of the external auditory canal (HP:0004459)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Mandibular hyperostosis (HP:0004472)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Varicocele (HP:0012871)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Thyroid adenoma (HP:0000854)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Goiter (HP:0000853)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Rib exostoses (HP:0000896)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Salivary basal cell adenoma (HP:6000007)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Cerebriform connective tissue nevus (HP:6000009)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Cerebriform connective tissue nevus (HP:6000009)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Weak extraocular muscles (HP:0007715)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Abnormal hypothalamus physiology (HP:0012285)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Long face (HP:0000276)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Long face (HP:0000276)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Overgrowth (HP:0001548)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: High palate (HP:0000218)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: High palate (HP:0000218)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AKT1
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Melanoma (HP:0002861)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Meningioma (HP:0002858)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Meningioma (HP:0002858)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Meningioma (HP:0002858)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Obesity (HP:0001513)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Central heterochromia (HP:0007818)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Retinal nonattachment (HP:0007899)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Progressive pulmonary function impairment (HP:0006520)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Decreased circulating ACTH concentration (HP:0002920)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Tinnitus (HP:0000360)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Micrognathia (HP:0000347)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Round face (HP:0000311)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Macrotia (HP:0000400)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Strabismus (HP:0000486)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AKT1
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AKT1
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AKT1
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Facial hyperostosis (HP:0005465)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Ovarian papillary adenocarcinoma (HP:0006774)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: AKT1
Phenotype: Enlarged pituitary gland (HP:0012505)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Cataract (HP:0000518)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Cataract (HP:0000518)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Proptosis (HP:0000520)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Proptosis (HP:0000520)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Ptosis (HP:0000508)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Ptosis (HP:0000508)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Macrodactyly (HP:0004099)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Myopia (HP:0000545)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Myopia (HP:0000545)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Myopia (HP:0000545)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: AKT2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Increased intraabdominal fat (HP:0008993)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: AKT2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)
Gene: AKT2
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Gene: AKT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Gene: AKT2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AKT2-related FPLD; AKT2-related familial partial lipodystrophy (ORPHA:79085)