TaoMedAI/RareMedData huggingface dataset:
Gene: ABCB4
Disease: Progressive familial intrahepatic cholestasis type 3; PFIC3 (ORPHA:79305)
Association type: UNKNOWN
Gene: SORD
Disease: SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY (OMIM:618912)
Association type: MENDELIAN
Gene: SORD
Disease:  (ORPHA:700508)
Association type: UNKNOWN
Gene: NDUFAF6
Disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Association type: MENDELIAN
Gene: NDUFAF6
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Association type: MENDELIAN
Gene: NDUFAF6
Disease: Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome; Primary Fanconi renal syndrome (ORPHA:3337)
Association type: UNKNOWN
Gene: FBXW11
Disease: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME (OMIM:618914)
Association type: MENDELIAN
Gene: FBXW11
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: DNAJC19
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Association type: MENDELIAN
Gene: DNAJC19
Disease: Dilated cardiomyopathy with ataxia; 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5 (ORPHA:66634)
Association type: UNKNOWN
Gene: ABCC1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 77 (OMIM:618915)
Association type: MENDELIAN
Gene: ABCC1
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: GLIS3
Disease: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM (OMIM:610199)
Association type: MENDELIAN
Gene: GLIS3
Disease: Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome (ORPHA:79118)
Association type: UNKNOWN
Gene: DALRD3
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86 (OMIM:618910)
Association type: MENDELIAN
Gene: DALRD3
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: CDK19
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87 (OMIM:618916)
Association type: MENDELIAN
Gene: CDK19
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: GRIA2
Disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618917)
Association type: MENDELIAN
Gene: MAP1B
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Association type: MENDELIAN
Gene: MAP1B
Disease: DEAFNESS, AUTOSOMAL DOMINANT 83 (OMIM:619808)
Association type: MENDELIAN
Gene: MAP1B
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: MAP1B
Disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Association type: UNKNOWN
Gene: CFHR3
Disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Association type: POLYGENIC
Gene: CFHR3
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Association type: POLYGENIC
Gene: CFHR3
Disease: C3 glomerulonephritis (ORPHA:329931)
Association type: UNKNOWN
Gene: HMCN1
Disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Association type: POLYGENIC
Gene: HMCN1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CFHR1
Disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Association type: POLYGENIC
Gene: CFHR1
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Association type: POLYGENIC
Gene: CFHR1
Disease: C3 glomerulonephritis (ORPHA:329931)
Association type: UNKNOWN
Gene: CFHR1
Disease: Dense deposit disease; Membranoproliferative glomerulonephritis type 2 (ORPHA:93571)
Association type: UNKNOWN
Gene: MFAP5
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: MFAP5
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: MFAP5
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: MFAP5
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: MFAP5
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 9 (OMIM:616166)
Association type: MENDELIAN
Gene: MFAP5
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: MFAP5
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: IPO8
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: IPO8
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: IPO8
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: IPO8
Disease: VISS SYNDROME (OMIM:619472)
Association type: MENDELIAN
Gene: IPO8
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: IPO8
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: IPO8
Disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Association type: UNKNOWN
Gene: THSD4
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: THSD4
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: THSD4
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: THSD4
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: THSD4
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: THSD4
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 12 (OMIM:619825)
Association type: MENDELIAN
Gene: THSD4
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: TGFB2
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: TGFB2
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: TGFB2
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: TGFB2
Disease: LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Association type: MENDELIAN
Gene: TGFB2
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: TGFB2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TGFB2
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: TGFB2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TGFB2
Disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Association type: UNKNOWN
Gene: TGFB2
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: AEBP1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: AEBP1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: AEBP1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: AEBP1
Disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Association type: MENDELIAN
Gene: AEBP1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: AEBP1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: AEBP1
Disease: Classical-like Ehlers-Danlos syndrome type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome; Classical-like EDS type 2; clEDS type 2 (ORPHA:536532)
Association type: UNKNOWN
Gene: FKBP14
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: FKBP14
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: FKBP14
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: FKBP14
Disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
Association type: MENDELIAN
Gene: FKBP14
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: FKBP14
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FKBP14
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: FKBP14
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FKBP14
Disease: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency; Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness; Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss; FKBP14-related EDS; FKBP22-deficient EDS; Kyphoscoliotic EDS due to FKBP22 deficiency; kEDS-FKBP14 (ORPHA:300179)
Association type: UNKNOWN
Gene: COL3A1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: COL3A1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: COL3A1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: COL3A1
Disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Association type: MENDELIAN
Gene: COL3A1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: COL3A1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: COL3A1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: COL3A1
Disease: Vascular Ehlers-Danlos-polymicrogyria syndrome; Vascular EDS with polymicrogyria (ORPHA:636941)
Association type: UNKNOWN
Gene: COL3A1
Disease: Familial abdominal aortic aneurysm (ORPHA:86)
Association type: UNKNOWN
Gene: COL3A1
Disease: Vascular Ehlers-Danlos syndrome; Arterial-ecchymotic EDS; EDS IV; Ehlers-Danlos syndrome type 4; Sack-Barabas syndrome; Vascular EDS; vEDS (ORPHA:286)
Association type: UNKNOWN
Gene: COL3A1
Disease: Acrogeria; Acrogeria, Gottron type; Acrometageria; Gottron syndrome (ORPHA:2500)
Association type: UNKNOWN
Gene: COL3A1
Disease: Familial cerebral saccular aneurysm; Familial berry aneurysm; Familial intracranial saccular aneurysm (ORPHA:231160)
Association type: UNKNOWN
Gene: SKI
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: SKI
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: SKI
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: SKI
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: SKI
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: SKI
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: SKI
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SKI
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: SKI
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SKI
Disease: Shprintzen-Goldberg syndrome; Marfanoid craniosynostosis syndrome; SGS (ORPHA:2462)
Association type: UNKNOWN
Gene: SKI
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: PLOD1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: PLOD1
Disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 (OMIM:225400)
Association type: MENDELIAN
Gene: PLOD1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: PLOD1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: PLOD1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: PLOD1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PLOD1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: PLOD1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PLOD1
Disease: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Cutis hyperelastica; EDS VIA; Ehlers-Danlos syndrome type 6A; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Lysyl hydroxylase-deficient EDS; Ocular-scoliotic EDS; kEDS-PLOD1 (ORPHA:1900)
Association type: UNKNOWN
Gene: NPR3
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: NPR3
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: NPR3
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: NPR3
Disease: BOUDIN-MORTIER SYNDROME (OMIM:619543)
Association type: MENDELIAN
Gene: NPR3
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: NPR3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NPR3
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: NPR3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMAD3
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: SMAD3
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: SMAD3
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: SMAD3
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: SMAD3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMAD3
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: SMAD3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMAD3
Disease: LOEYS-DIETZ SYNDROME 3 (OMIM:613795)
Association type: MENDELIAN
Gene: SMAD3
Disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Association type: UNKNOWN
Gene: SMAD3
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: SMAD3
Disease: Aneurysm-osteoarthritis syndrome (ORPHA:284984)
Association type: UNKNOWN
Gene: PMEPA1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: PMEPA1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: PMEPA1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: PMEPA1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: PMEPA1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: EFEMP1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: EFEMP1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: EFEMP1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: EFEMP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: EFEMP1
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY (OMIM:126600)
Association type: MENDELIAN
Gene: EFEMP1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: EFEMP1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: EFEMP1
Disease: GLAUCOMA 1, OPEN ANGLE, H (OMIM:611276)
Association type: MENDELIAN
Gene: EFEMP1
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Association type: MENDELIAN
Gene: EFEMP1
Disease: Familial drusen; DHRD; Dominant drusen; Dominant radial drusen; Doyne honeycomb retinal dystrophy; Malattia leventinese (ORPHA:75376)
Association type: UNKNOWN
Gene: EFEMP1
Disease: Juvenile glaucoma (ORPHA:98977)
Association type: UNKNOWN
Gene: EFEMP2
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: EFEMP2
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: EFEMP2
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: EFEMP2
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: EFEMP2
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Association type: MENDELIAN
Gene: EFEMP2
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: EFEMP2
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: EFEMP2
Disease: Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Association type: UNKNOWN
Gene: EFEMP2
Disease: Lethal arteriopathy syndrome due to fibulin-4 deficiency (ORPHA:314718)
Association type: UNKNOWN
Gene: ASPH
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: ASPH
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: ASPH
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: ASPH
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: ASPH
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: ASPH
Disease: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Association type: MENDELIAN
Gene: ASPH
Disease: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome; FDLAB syndrome; Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome; Traboulsi syndrome (ORPHA:412022)
Association type: UNKNOWN
Gene: FBN2
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: FBN2
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: FBN2
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: FBN2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: FBN2
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: FBN2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FBN2
Disease: MACULAR DEGENERATION, EARLY-ONSET (OMIM:616118)
Association type: MENDELIAN
Gene: FBN2
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: FBN2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FBN2
Disease: Congenital contractural arachnodactyly; Beals syndrome; Beals-Hecht syndrome; CCA syndrome; Distal arthrogryposis type 9 (ORPHA:115)
Association type: UNKNOWN
Gene: EMILIN1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: EMILIN1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: EMILIN1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10 (OMIM:620080)
Association type: MENDELIAN
Gene: EMILIN1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: EMILIN1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: EMILIN1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: EMILIN1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: EMILIN1
Disease:  (OMIM:620908)
Association type: MENDELIAN
Gene: EMILIN1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: EMILIN1
Disease: EMILIN-1-related connective tissue disease (ORPHA:485418)
Association type: UNKNOWN
Gene: LOX
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: LOX
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: LOX
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: LOX
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: LOX
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: LOX
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 (OMIM:617168)
Association type: MENDELIAN
Gene: LOX
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: SLC2A10
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: SLC2A10
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: SLC2A10
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: SLC2A10
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: SLC2A10
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: SLC2A10
Disease: Arterial tortuosity syndrome; ATS (ORPHA:3342)
Association type: UNKNOWN
Gene: TGFB3
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: TGFB3
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: TGFB3
Disease: LOEYS-DIETZ SYNDROME 5 (OMIM:615582)
Association type: MENDELIAN
Gene: TGFB3
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: TGFB3
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: TGFB3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TGFB3
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: TGFB3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TGFB3
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (OMIM:107970)
Association type: MENDELIAN
Gene: TGFB3
Disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Association type: UNKNOWN
Gene: TGFB3
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: TGFB3
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN