TaoMedAI/RareMedData huggingface dataset:
Gene: TNFSF4
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Hallucinations (HP:0000738)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Anxiety (HP:0000739)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Depression (HP:0000716)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Restlessness (HP:0000711)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Psychosis (HP:0000709)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Hypertension (HP:0000822)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Obesity (HP:0001513)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Restless legs (HP:0012452)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFRSF4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 16 (OMIM:615593)
Gene: TNFRSF4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 16 (OMIM:615593)
Gene: TNFRSF4
Phenotype: Kaposi's sarcoma (HP:0100726)
Associated disease: IMMUNODEFICIENCY 16 (OMIM:615593)
Gene: TNFRSF4
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: IMMUNODEFICIENCY 16 (OMIM:615593)
Gene: TNFRSF4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 16 (OMIM:615593)
Gene: TNFRSF4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 16 (OMIM:615593)
Gene: TNFRSF4
Phenotype: Pancytopenia (HP:0001876)
Associated disease: IMMUNODEFICIENCY 16 (OMIM:615593)
Gene: TYK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 35 (OMIM:611521)
Gene: TYK2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 35 (OMIM:611521)
Gene: TYK2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 35 (OMIM:611521)
Gene: TYK2
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: IMMUNODEFICIENCY 35 (OMIM:611521)
Gene: TYK2
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 35 (OMIM:611521)
Gene: TYK2
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: IMMUNODEFICIENCY 35 (OMIM:611521)
Gene: TYK2
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: IMMUNODEFICIENCY 35 (OMIM:611521)
Gene: TYMS
Phenotype: Epiphora (HP:0009926)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Hepatic failure (HP:0001399)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Neoplasm (HP:0002664)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Lymphoma (HP:0002665)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Scoliosis (HP:0002650)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Congenital onset (HP:0003577)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormal palmar dermatoglyphics (HP:0001018)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Skin vesicle (HP:0200037)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Anemia (HP:0001903)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Anemia (HP:0001903)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: White hair (HP:0011364)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Taurodontia (HP:0000679)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Carious teeth (HP:0000670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Short stature (HP:0004322)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Short stature (HP:0004322)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Macule (HP:0012733)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Periodontitis (HP:0000704)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Sparse hair (HP:0008070)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Alopecia (HP:0001596)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Alopecia (HP:0001596)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Short telomere length (HP:0031413)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Melanoma (HP:0002861)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Gene: TYMS
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYMS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: TYR
Phenotype: Ocular albinism (HP:0001107)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Ocular albinism (HP:0001107)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Gene: TYR
Phenotype: Freckling (HP:0001480)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Freckling (HP:0001480)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Congenital onset (HP:0003577)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: White forelock (HP:0002211)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Absent skin pigmentation (HP:0200098)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Gene: TYR
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Albinism (HP:0001022)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Gene: TYR
Phenotype: Albinism (HP:0001022)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Albinism (HP:0001022)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Albinism (HP:0001022)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Thickened skin (HP:0001072)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Thickened skin (HP:0001072)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Gene: TYR
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)