TaoMedAI/RareMedData huggingface dataset:
Gene: CARS1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Irritability (HP:0000737)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Depression (HP:0000716)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Sparse hair (HP:0008070)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: High forehead (HP:0000348)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Narrow nose (HP:0000460)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME (OMIM:618891)
Gene: CARS1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CARS1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CASP2
Phenotype: Thin ear helix (HP:0009905)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Spasticity (HP:0001257)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Pachygyria (HP:0001302)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Developmental regression (HP:0002376)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Dimple chin (HP:0010751)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Broad lateral eyebrow (HP:0007933)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Gene: CASP8
Phenotype: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410300)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: CASP8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CASP8
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: CASP8
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: CASP8
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CASP8
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: CASP8
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: CASP8
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Asthma (HP:0002099)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Pneumonia (HP:0002090)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Inverted CD4:CD8 ratio (HP:0033222)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Reduced CD95-induced lymphocyte apoptosis (HP:0033278)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Short stature (HP:0004322)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: CASP8
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CASP8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: CASP8
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CASP8
Phenotype: Defective B cell activation (HP:0005384)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Gene: CASP8
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CASP10
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Seizure (HP:0001250)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Colitis (HP:0002583)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Arthritis (HP:0001369)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Malar rash (HP:0025300)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Lymphoma (HP:0002665)
Associated disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Gene: CASP10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Vasculitis (HP:0002633)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Vasculitis (HP:0002633)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: T-cell lymphoma (HP:0012190)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Stomach cancer (HP:0012126)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: CASP10
Phenotype: Hepatitis (HP:0012115)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: CASP10
Phenotype: Nephritis (HP:0000123)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: CASP10
Phenotype: Decreased T cell apoptosis (HP:0002731)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased circulating interleukin 10 concentration (HP:0033199)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased circulating interleukin 18 concentration (HP:0034447)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Platelet antibody positive (HP:0003454)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Urticaria (HP:0001025)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Urticaria (HP:0001025)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Headache (HP:0002315)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Thyroiditis (HP:0100646)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)