TaoMedAI/RareMedData huggingface dataset:
Gene: CD19
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 3 (OMIM:613493)
Gene: MS4A1
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: MS4A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: MS4A1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: MS4A1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: MS4A1
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: MS4A1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: MS4A1
Phenotype: Chronic decreased circulating total IgG (HP:0032134)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: MS4A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: MS4A1
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Gene: CD27
Phenotype: EBV encephalitis (HP:0033509)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: EBV meningitis (HP:0033508)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Sepsis (HP:0100806)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Lymphoma (HP:0002665)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Oral ulcer (HP:0000155)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Recurrent infections (HP:0002719)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Fever (HP:0001945)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Ascites (HP:0001541)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Uveitis (HP:0000554)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD27
Phenotype: Pancytopenia (HP:0001876)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Gene: CD28
Phenotype: Shivering (HP:0025144)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Chills (HP:0025143)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Cutaneous horn (HP:0033510)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Disseminated cutaneous warts (HP:0032215)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Genital warts (HP:0032301)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Diffuse skin atrophy (HP:0007488)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Lymphoma (HP:0002665)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Lymphoma (HP:0002665)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Tremor (HP:0001337)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Cutaneous T-cell lymphoma (HP:0012192)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Cutaneous T-cell lymphoma (HP:0012192)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Erythematous macule (HP:0025475)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Verruca plana (HP:0550004)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Hypothermia (HP:0002045)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Increased CD4:CD8 ratio (HP:0033221)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Abnormal circulating immunoglobulin concentration (HP:0010701)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Lichenification (HP:0100725)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Gangrene (HP:0100758)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Poikiloderma (HP:0001029)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Erythroderma (HP:0001019)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Erythroderma (HP:0001019)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Skin plaque (HP:0200035)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Verrucae (HP:0200043)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Erythema (HP:0010783)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Juvenile onset (HP:0003621)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Fever (HP:0001945)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Ectropion (HP:0000656)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Pruritus (HP:0000989)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Pruritus (HP:0000989)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Skin rash (HP:0000988)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Dry skin (HP:0000958)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Dry skin (HP:0000958)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Edema (HP:0000969)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Edema (HP:0000969)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Alopecia (HP:0001596)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Alopecia (HP:0001596)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Abnormal T cell morphology (HP:0002843)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Night sweats (HP:0030166)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease:  (OMIM:620901)
Gene: CD28
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CD28
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD28
Phenotype: Weight loss (HP:0001824)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CD36
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PLATELET GLYCOPROTEIN IV DEFICIENCY (OMIM:608404)
Gene: CD36
Phenotype: Giant platelets (HP:0001902)
Associated disease: PLATELET GLYCOPROTEIN IV DEFICIENCY (OMIM:608404)
Gene: CD36
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: PLATELET GLYCOPROTEIN IV DEFICIENCY (OMIM:608404)
Gene: CD36
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: PLATELET GLYCOPROTEIN IV DEFICIENCY (OMIM:608404)
Gene: CD36
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PLATELET GLYCOPROTEIN IV DEFICIENCY (OMIM:608404)
Gene: SCARB2
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Ataxia (HP:0001251)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Proteinuria (HP:0000093)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Anasarca (HP:0012050)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Bone pain (HP:0002653)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Nephropathy (HP:0000112)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Dysphagia (HP:0002015)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Intention tremor (HP:0002080)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Intention tremor (HP:0002080)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Anorexia (HP:0002039)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Postural tremor (HP:0002174)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Pleural effusion (HP:0002202)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Action tremor (HP:0002345)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Decreased beta-glucocerebrosidase level (HP:0003656)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Pinguecula (HP:0031830)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Hypersplenism (HP:0001971)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Anemia (HP:0001903)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Short stature (HP:0004322)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Gene: SCARB2
Phenotype: Depression (HP:0000716)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Dementia (HP:0000726)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Hematuria (HP:0000790)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: SCARB2
Phenotype: Splenic infarction (HP:0034336)
Associated disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Gene: SCARB2
Phenotype: Edema (HP:0000969)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)