TaoMedAI/RareMedData huggingface dataset:
Gene: SNF8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Pachygyria (HP:0001302)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Dysphagia (HP:0002015)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Tube feeding (HP:0033454)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Tube feeding (HP:0033454)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Gene: SNF8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: SNF8
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Gene: USP18
Phenotype: Fetal distress (HP:0025116)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Lethargy (HP:0001254)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Seizure (HP:0001250)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Acute respiratory distress syndrome (HP:0033677)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Abnormal renal corticomedullary differentiation (HP:0005932)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Pleural effusion (HP:0002202)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Fetal onset (HP:0011461)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Thin ribs (HP:0000883)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Petechiae (HP:0000967)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Microcephaly (HP:0000252)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Ascites (HP:0001541)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Bradycardia (HP:0001662)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: USP18
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PSEUDO-TORCH SYNDROME 2 (OMIM:617397)
Gene: TREX1
Phenotype: Retinal exudate (HP:0001147)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Deep white matter hypodensities (HP:0007321)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: CNS demyelination (HP:0007305)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Abnormal pyramidal sign (HP:0007256)
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: Intracerebral periventricular calcifications (HP:0007229)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Poor head control (HP:0002421)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Leukodystrophy (HP:0002415)
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-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Stroke (HP:0001297)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Sepsis (HP:0100806)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Hypertonia (HP:0001276)
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: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Gait disturbance (HP:0001288)
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: Seizure (HP:0001250)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Seizure (HP:0001250)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Dysarthria (HP:0001260)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Global developmental delay (HP:0001263)
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: Spasticity (HP:0001257)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Spasticity (HP:0001257)
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: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Inability to walk (HP:0002540)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Cerebral calcification (HP:0002514)
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 tetraplegia (HP:0002510)
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: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Proteinuria (HP:0000093)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Arthritis (HP:0001369)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Arthritis (HP:0001369)
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: Micropenis (HP:0000054)
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: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Plagiocephaly (HP:0001357)
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: Feeding difficulties in infancy (HP:0008872)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Dystonia (HP:0001332)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Dystonia (HP:0001332)
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: Malar rash (HP:0025300)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Absent speech (HP:0001344)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Tremor (HP:0001337)
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: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Gene: TREX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Vasculitis (HP:0002633)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Scoliosis (HP:0002650)
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: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TREX1
Phenotype: Axial hypotonia (HP:0008936)
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: Axial hypotonia (HP:0008936)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Nephritis (HP:0000123)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Hepatosplenomegaly (HP:0001433)
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: Micronodular cirrhosis (HP:0001413)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TREX1
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: TREX1
Phenotype: Focal hyperintensity of cerebral white matter on MRI (HP:0040328)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Focal hypointensity of cerebral white matter on MRI (HP:0040331)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Migraine without aura (HP:0002083)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Gene: TREX1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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: Migraine (HP:0002076)
Associated disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Gene: TREX1
Phenotype: Migraine (HP:0002076)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Migraine with aura (HP:0002077)
Associated disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Gene: TREX1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)