TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM216
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM216
Phenotype: Ptosis (HP:0000508)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Visual impairment (HP:0000505)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Visual impairment (HP:0000505)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Microphthalmia (HP:0000568)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MECKEL SYNDROME, TYPE 2 (OMIM:603194)
Gene: TMEM216
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Esotropia (HP:0000565)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Esotropia (HP:0000565)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: TMEM216
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: JOUBERT SYNDROME 2 (OMIM:608091)
Gene: TMEM216
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM216
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM216
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM216
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM216
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TMEM216
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM216
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UBAP1
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Seizure (HP:0001250)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Clonus (HP:0002169)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Abnormal lower-limb motor evoked potentials (HP:0012898)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: UBAP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Gene: UBAP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG12; Autosomal dominant spastic paraplegia type 12 (ORPHA:100993)
Gene: TLR7
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Malar rash (HP:0025300)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Oral ulcer (HP:0000155)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED (OMIM:301051)
Gene: TLR7
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Chorea (HP:0002072)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Severe SARS-CoV-2 infection (HP:0033141)
Associated disease: IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED (OMIM:301051)
Gene: TLR7
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Anti-aquaporin 4 antibody positivity (HP:0033342)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Headache (HP:0002315)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Optic neuritis (HP:0100653)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Fever (HP:0001945)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Recurrent fever (HP:0001954)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Anxiety (HP:0000739)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Alopecia (HP:0001596)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Arthralgia (HP:0002829)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Myelitis (HP:0012486)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Early young adult onset (HP:0025708)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Severe viral infection (HP:0031691)
Associated disease: IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED (OMIM:301051)
Gene: TLR7
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TLR7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS 17 (OMIM:301080)
Gene: TLR7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CD320
Phenotype: Reduced cellular cobalamin uptake (HP:0034985)
Associated disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Gene: CD320
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Gene: CD320
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Gene: CD320
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Gene: CD320
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Gene: CD320
Phenotype: Congenital onset (HP:0003577)
Associated disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Gene: CD320
Phenotype: Neonatal onset (HP:0003623)
Associated disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Gene: CD320
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT (OMIM:613646)
Gene: PCDH12
Phenotype: Seizure (HP:0001250)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)