TaoMedAI/RareMedData huggingface dataset:
Gene: TCIRG1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Short stature (HP:0004322)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Cortical sclerosis (HP:0005652)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Periodontitis (HP:0000704)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Osteosclerosis of the base of the skull (HP:0005746)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Pallor (HP:0000980)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Coxa vara (HP:0002812)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Gingivitis (HP:0000230)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Growth delay (HP:0001510)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Rhinitis (HP:0012384)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Otitis media (HP:0000388)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TCIRG1
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Optic atrophy from cranial nerve compression (HP:0007958)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TCIRG1
Phenotype: Visual impairment (HP:0000505)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TCIRG1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TCIRG1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TCIRG1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: TCIRG1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Gene: TCIRG1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: TNIP1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNIP1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: LAMC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Gene: LAMC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Gene: LAMC3
Phenotype: Pachygyria (HP:0001302)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Gene: LAMC3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Gene: LAMC3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Gene: LAMC3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
Gene: LAMC3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)