TaoMedAI/RareMedData huggingface dataset:
Gene: TWIST1
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Flat forehead (HP:0004425)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Long nose (HP:0003189)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Long nose (HP:0003189)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Short clavicles (HP:0000894)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Epicanthus (HP:0000286)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Oxycephaly (HP:0000263)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Oxycephaly (HP:0000263)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Turricephaly (HP:0000262)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Malar flattening (HP:0000272)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Malar flattening (HP:0000272)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis; Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Gene: TWIST1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis; Non-syndromic sagittal craniosynostosis (ORPHA:35093)
Gene: TWIST1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Proximal radio-ulnar synostosis (HP:0005037)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: High palate (HP:0000218)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Flat face (HP:0012368)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Flat face (HP:0012368)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Cupped ear (HP:0000378)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Widow's peak (HP:0000349)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: High forehead (HP:0000348)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: High forehead (HP:0000348)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Short philtrum (HP:0000322)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Strabismus (HP:0000486)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Strabismus (HP:0000486)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Strabismus (HP:0000486)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Small nail (HP:0001792)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Narrow nose (HP:0000460)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Narrow nose (HP:0000460)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Broad neck (HP:0000475)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Asplenia (HP:0001746)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Flat occiput (HP:0005469)
Associated disease: SWEENEY-COX SYNDROME (OMIM:617746)
Gene: TWIST1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TWIST1
Phenotype: Proptosis (HP:0000520)
Associated disease: Non-syndromic bicoronal craniosynostosis; Non-syndromic bilateral coronal suture synostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly (ORPHA:35099)
Gene: TWIST1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Broad toe (HP:0001837)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Ptosis (HP:0000508)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: TWIST1
Phenotype: Ptosis (HP:0000508)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Systolic heart murmur (HP:0031664)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Gene: TWIST1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Gene: TWIST1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: TWIST1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TWIST1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF4
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Syncope (HP:0001279)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Cataplexy (HP:0002524)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Slurred speech (HP:0001350)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Nocturia (HP:0000017)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Abnormal pupillary function (HP:0007686)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Constipation (HP:0002019)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Migraine (HP:0002076)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Drooling (HP:0002307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: TNFSF4
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: TNFSF4
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)