TaoMedAI/RareMedData huggingface dataset:
Gene: TREX1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Pleuritis (HP:0002102)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Apraxia (HP:0002186)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Adult onset (HP:0003581)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Increased CSF interferon alpha (HP:0009709)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Increased CSF interferon alpha (HP:0009709)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Chilblains (HP:0009710)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Chilblains (HP:0009710)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Chilblains (HP:0009710)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Chronic CSF lymphocytosis (HP:0009704)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Chronic CSF lymphocytosis (HP:0009704)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Progressive forgetfulness (HP:0007017)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Central nervous system degeneration (HP:0007009)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Nodular regenerative hyperplasia of liver (HP:0011954)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Neonatal alloimmune thrombocytopenia (HP:0004809)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Extrapyramidal muscular rigidity (HP:0007076)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Multifocal cerebral white matter abnormalities (HP:0007052)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Aphasia (HP:0002381)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Loss of speech (HP:0002371)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Progressive (HP:0003676)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Headache (HP:0002315)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Punctate vasculitis skin lesions (HP:0200030)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Punctate vasculitis skin lesions (HP:0200030)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Myositis (HP:0100614)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Erythema (HP:0010783)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Limb pain (HP:0009763)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Chronic lymphatic leukemia (HP:0005550)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Fever (HP:0001945)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Short stature (HP:0004322)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Short stature (HP:0004322)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Irritability (HP:0000737)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Irritability (HP:0000737)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Anxiety (HP:0000739)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Apathy (HP:0000741)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Self-mutilation (HP:0000742)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Depression (HP:0000716)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Dementia (HP:0000726)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Psychosis (HP:0000709)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Psychosis (HP:0000709)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Hematuria (HP:0000790)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Hypertension (HP:0000822)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: TREX1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Macular edema (HP:0040049)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Macular edema (HP:0040049)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)