TaoMedAI/RareMedData huggingface dataset:
Gene: AK2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Absent cellular immunity (HP:0005354)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Weight loss (HP:0001824)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: RETICULAR DYSGENESIS (OMIM:267500)
Gene: AK2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AK2
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Reticular dysgenesis; AK2 deficiency; SCID with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss; SCID with sensorineural hearing loss; De Vaal disease; Severe combined immunodeficiency with sensorineural deafness (ORPHA:33355)
Gene: AKT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Capillary malformation (HP:0025104)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Sporadic (HP:0003745)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Nevus (HP:0003764)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Seizure (HP:0001250)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Seizure (HP:0001250)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Seizure (HP:0001250)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Ataxia (HP:0001251)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Hypertrophy of skin of soles (HP:0007403)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Bone cyst (HP:0012062)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Long penis (HP:0000040)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Lipoma (HP:0012032)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Lipoma (HP:0012032)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Lipoma (HP:0012032)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Abnormal subcutaneous fat tissue distribution (HP:0007552)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Depigmentation/hyperpigmentation of skin (HP:0007483)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: AKT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AKT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: AKT1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Pulmonary cyst (HP:0032445)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Open mouth (HP:0000194)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Open mouth (HP:0000194)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: AKT1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: AKT1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: AKT1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Neoplasm of the thymus (HP:0100521)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Neoplasm of the lung (HP:0100526)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Intention tremor (HP:0002080)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Sirenomelia (HP:0010497)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Skin tags (HP:0010609)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Hamartoma (HP:0010566)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Thymus hyperplasia (HP:0010516)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Retinal hamartoma (HP:0009594)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Adult onset (HP:0003581)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Lymphangioma (HP:0100764)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Exostoses (HP:0100777)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Hyperostosis (HP:0100774)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Bronchogenic cyst (HP:0100730)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Subcutaneous lipoma (HP:0001031)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Hemangioma (HP:0001028)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Progressive (HP:0003676)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Thyroiditis (HP:0100646)
Associated disease: COWDEN SYNDROME 6 (OMIM:615109)
Gene: AKT1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Epidermal nevus (HP:0010816)
Associated disease: PROTEUS SYNDROME (OMIM:176920)
Gene: AKT1
Phenotype: Epidermal nevus (HP:0010816)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: AKT1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)
Gene: AKT1
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: AKT1
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: AKT1
Phenotype: Testicular neoplasm (HP:0010788)
Associated disease: Proteus syndrome; Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome (ORPHA:744)