TaoMedAI/RareMedData huggingface dataset:
Gene: STAT3
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: High palate (HP:0000218)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Gingivitis (HP:0000230)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Intestinal perforation (HP:0031368)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Fatigue (HP:0012378)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Ketonuria (HP:0002919)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Oral cavity bleeding (HP:0030140)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Autoimmunity (HP:0002960)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Retinopathy (HP:0000488)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Wide nose (HP:0000445)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Epistaxis (HP:0000421)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Weight loss (HP:0001824)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Paronychia (HP:0001818)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Gene: STAT3
Phenotype: Opportunistic infection (HP:0031690)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STAT3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Gene: STAT3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Gene: STAT3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Job syndrome; Buckley syndrome; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; AD-HIES due to STAT3 deficiency (ORPHA:2314)
Gene: STAT3
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STAT3
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: STAT4
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: STAT4
Phenotype: Language impairment (HP:0002463)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Seizure (HP:0001250)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Proteinuria (HP:0000093)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: STAT4
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: STAT4
Phenotype: Lupus anticoagulant (HP:0025343)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Arthritis (HP:0001369)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: STAT4
Phenotype: Arthritis (HP:0001369)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Arthritis (HP:0001369)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: STAT4
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Joint swelling (HP:0001386)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: STAT4
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: STAT4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: STAT4
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: STAT4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: STAT4
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: STAT4
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Malar rash (HP:0025300)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD (OMIM:620443)
Gene: STAT4
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: STAT4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD (OMIM:620443)
Gene: STAT4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: STAT4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: STAT4
Phenotype: Nephritis (HP:0000123)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: STAT4
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)