TaoMedAI/RareMedData huggingface dataset:
Gene: TPM1
Disease: CARDIOMYOPATHY, DILATED, 1Y (OMIM:611878)
Association type: MENDELIAN
Gene: TPM1
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: TPM1
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: MYBPC3
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 (OMIM:115197)
Association type: MENDELIAN
Gene: MYBPC3
Disease: LEFT VENTRICULAR NONCOMPACTION 10 (OMIM:615396)
Association type: MENDELIAN
Gene: MYBPC3
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: MYBPC3
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: PRKAG2
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (OMIM:600858)
Association type: MENDELIAN
Gene: PRKAG2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: PRKAG2
Disease: WOLFF-PARKINSON-WHITE SYNDROME (OMIM:194200)
Association type: MENDELIAN
Gene: PRKAG2
Disease: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL (OMIM:261740)
Association type: MENDELIAN
Gene: PRKAG2
Disease: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease; Fatal congenital hypertrophic cardiomyopathy due to GSD; Fatal congenital hypertrophic cardiomyopathy due to glycogenosis (ORPHA:439854)
Association type: UNKNOWN
Gene: TNNT2
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2 (OMIM:115195)
Association type: MENDELIAN
Gene: TNNT2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: TNNT2
Disease: CARDIOMYOPATHY, DILATED, 1D (OMIM:601494)
Association type: MENDELIAN
Gene: TNNT2
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (OMIM:612422)
Association type: MENDELIAN
Gene: TNNT2
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: TNNT2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: TNNT2
Disease: Familial isolated restrictive cardiomyopathy; Familial or idiopathic restrictive cardiomyopathy (ORPHA:75249)
Association type: UNKNOWN
Gene: HTRA1
Disease: MACULAR DEGENERATION, AGE-RELATED, 7 (OMIM:610149)
Association type: POLYGENIC
Gene: HTRA1
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 (OMIM:616779)
Association type: MENDELIAN
Gene: HTRA1
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (OMIM:600142)
Association type: MENDELIAN
Gene: HTRA1
Disease: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy; CARASIL; Maeda syndrome (ORPHA:199354)
Association type: UNKNOWN
Gene: HTRA1
Disease: HTRA1-related autosomal dominant cerebral small vessel disease; HTRA1-related autosomal dominant cerebral angiopathy (ORPHA:482077)
Association type: UNKNOWN
Gene: HTRA1
Disease: Malignant triton tumor; MPNST with rhabdomyosarcomatous differentiation; MTT; Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation (ORPHA:252212)
Association type: UNKNOWN
Gene: HTRA1
Disease: Malignant peripheral nerve sheath tumor with perineurial differentiation; Malignant perineurioma (ORPHA:252128)
Association type: UNKNOWN
Gene: COL1A1
Disease: OSTEOPOROSIS (OMIM:166710)
Association type: POLYGENIC
Gene: COL1A1
Disease: CAFFEY DISEASE (OMIM:114000)
Association type: MENDELIAN
Gene: COL1A1
Disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Association type: MENDELIAN
Gene: COL1A1
Disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Association type: MENDELIAN
Gene: COL1A1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: COL1A1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL1A1
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Association type: MENDELIAN
Gene: COL1A1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL1A1
Disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Association type: MENDELIAN
Gene: COL1A1
Disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Association type: MENDELIAN
Gene: COL1A1
Disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Association type: MENDELIAN
Gene: COL1A1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: COL1A1
Disease: High bone mass osteogenesis imperfecta; High bone mass OI (ORPHA:314029)
Association type: UNKNOWN
Gene: COL1A1
Disease: Classical Ehlers-Danlos syndrome; Classical EDS; cEDS (ORPHA:287)
Association type: UNKNOWN
Gene: COL1A1
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: COL1A1
Disease: Osteogenesis imperfecta type 2; Lethal osteogenesis imperfecta; OI type 2 (ORPHA:216804)
Association type: UNKNOWN
Gene: COL1A1
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: COL1A1
Disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Association type: UNKNOWN
Gene: COL1A1
Disease: Osteogenesis imperfecta type 1; Adair-Dighton syndrome; Mild osteogenesis imperfecta; Non-deforming osteogenesis imperfecta; OI type 1; Van der Hoeve syndrome (ORPHA:216796)
Association type: UNKNOWN
Gene: COL1A1
Disease: Arthrochalasia Ehlers-Danlos syndrome; Arthrochalasia EDS; Arthrochalasis multiplex congenita; EDS VII; Ehlers-Danlos syndrome type 7; Ehlers-Danlos syndrome, arthrochalasia type; aEDS (ORPHA:1899)
Association type: UNKNOWN
Gene: COL1A1
Disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Association type: UNKNOWN
Gene: COL1A1
Disease: Ehlers-Danlos/osteogenesis imperfecta syndrome; EDS/OI syndrome (ORPHA:230857)
Association type: UNKNOWN
Gene: CALCR
Disease: OSTEOPOROSIS (OMIM:166710)
Association type: POLYGENIC
Gene: PDLIM4
Disease: OSTEOPOROSIS (OMIM:166710)
Association type: POLYGENIC
Gene: MARVELD2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49 (OMIM:610153)
Association type: MENDELIAN
Gene: MARVELD2
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: ADCY1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 44 (OMIM:610154)
Association type: MENDELIAN
Gene: ADCY1
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: PLG
Disease: PLASMINOGEN DEFICIENCY, TYPE I (OMIM:217090)
Association type: MENDELIAN
Gene: PLG
Disease: ANGIOEDEMA, HEREDITARY, 4 (OMIM:619360)
Association type: MENDELIAN
Gene: PLG
Disease: PLG-related hereditary angioedema with normal C1Inh; PLG-related HAE with normal C1 inhibitor (ORPHA:537072)
Association type: UNKNOWN
Gene: PLG
Disease: Hypoplasminogenemia; Plasminogen deficiency type 1 (ORPHA:722)
Association type: UNKNOWN
Gene: SERPINA6
Disease: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY (OMIM:611489)
Association type: MENDELIAN
Gene: SERPINA6
Disease: Corticosteroid-binding globulin deficiency; Transcortin deficiency (ORPHA:199247)
Association type: UNKNOWN
Gene: FSHB
Disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Association type: MENDELIAN
Gene: FSHB
Disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Association type: UNKNOWN
Gene: TBX1
Disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Association type: MENDELIAN
Gene: TBX1
Disease: DIGEORGE SYNDROME (OMIM:188400)
Association type: MENDELIAN
Gene: TBX1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TBX1
Disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Association type: MENDELIAN
Gene: TBX1
Disease: Combined immunodeficiency due to TBX1 deficiency (ORPHA:685017)
Association type: UNKNOWN
Gene: TBX1
Disease: Common arterial trunk; CAT; Common aorticopulmonary trunk; Truncus arteriosus (ORPHA:3384)
Association type: UNKNOWN
Gene: TBX1
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: TBX1
Disease: 22q11.2 deletion syndrome; 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; Velocardiofacial syndrome (ORPHA:567)
Association type: UNKNOWN
Gene: TBX1
Disease: 22q11.2 duplication syndrome; 22q11.2 microduplication syndrome; Dup(22)(q11); Duplication 22q11.2; Trisomy 22q11.2 (ORPHA:1727)
Association type: UNKNOWN
Gene: NKX2-6
Disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Association type: MENDELIAN
Gene: NKX2-6
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NKX2-6
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: NKX2-6
Disease: Common arterial trunk; CAT; Common aorticopulmonary trunk; Truncus arteriosus (ORPHA:3384)
Association type: UNKNOWN
Gene: NKX2-6
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: GATA6
Disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Association type: MENDELIAN
Gene: GATA6
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES (OMIM:600001)
Association type: MENDELIAN
Gene: GATA6
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GATA6
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5 (OMIM:614474)
Association type: MENDELIAN
Gene: GATA6
Disease: ATRIAL SEPTAL DEFECT 9 (OMIM:614475)
Association type: MENDELIAN
Gene: GATA6
Disease: Complete atrioventricular septal defect with ventricular hypoplasia; CAVC with ventricular hypoplasia; Complete AVSD with ventricular hypoplasia; Complete atrioventricular canal defect with ventricular hypoplasia; Complete atrioventricular septal defect with ventricular imbalance; Unbalanced complete atrioventricular canal (ORPHA:99067)
Association type: UNKNOWN
Gene: GATA6
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: GATA6
Disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Association type: UNKNOWN
Gene: GATA6
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: GATA6
Disease: Congenital diaphragmatic hernia; CDH (ORPHA:2140)
Association type: UNKNOWN
Gene: GATA6
Disease: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; PACHD; Pancreatic agenesis and congenital heart defects syndrome; Yorifuji-Okuno syndrome (ORPHA:2255)
Association type: UNKNOWN
Gene: EVC2
Disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Association type: MENDELIAN
Gene: EVC2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EVC2
Disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Association type: MENDELIAN
Gene: EVC2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EVC2
Disease: Ellis Van Creveld syndrome; Chondroectodermal dysplasia; Mesodermic dysplasia (ORPHA:289)
Association type: UNKNOWN
Gene: EVC2
Disease: Acrofacial dysostosis, Weyers type; Curry-Hall syndrome; Weyers acrodental dysostosis; Weyers acrofacial dysostosis (ORPHA:952)
Association type: UNKNOWN
Gene: EVC
Disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Association type: MENDELIAN
Gene: EVC
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EVC
Disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Association type: MENDELIAN
Gene: EVC
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EVC
Disease: Ellis Van Creveld syndrome; Chondroectodermal dysplasia; Mesodermic dysplasia (ORPHA:289)
Association type: UNKNOWN
Gene: EVC
Disease: Acrofacial dysostosis, Weyers type; Curry-Hall syndrome; Weyers acrodental dysostosis; Weyers acrofacial dysostosis (ORPHA:952)
Association type: UNKNOWN
Gene: CLCN7
Disease: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4 (OMIM:611490)
Association type: MENDELIAN
Gene: CLCN7
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 (OMIM:166600)
Association type: MENDELIAN
Gene: CLCN7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CLCN7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CLCN7
Disease: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT (OMIM:618541)
Association type: MENDELIAN
Gene: CLCN7
Disease: Albers-Schönberg osteopetrosis; Osteopetrosis autosomal dominant type 2 (ORPHA:53)
Association type: UNKNOWN
Gene: CLCN7
Disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Association type: UNKNOWN
Gene: CLCN7
Disease: Autosomal recessive malignant osteopetrosis; Infantile malignant osteopetrosis (ORPHA:667)
Association type: UNKNOWN
Gene: KCNE2
Disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Association type: MENDELIAN
Gene: KCNE2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCNE2
Disease: LONG QT SYNDROME 6 (OMIM:613693)
Association type: MENDELIAN
Gene: KCNE2
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: KCNE2
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: CD247
Disease: IMMUNODEFICIENCY 25 (OMIM:610163)
Association type: MENDELIAN
Gene: CD247
Disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Association type: UNKNOWN
Gene: CD247
Disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis; Rheumatoid factor-negative polyarticular JIA (ORPHA:85408)
Association type: UNKNOWN
Gene: CD247
Disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Association type: UNKNOWN
Gene: PLEKHM1
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6 (OMIM:611497)
Association type: MENDELIAN
Gene: PLEKHM1
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Association type: MENDELIAN
Gene: PLEKHM1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PLEKHM1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PLEKHM1
Disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Association type: UNKNOWN
Gene: GLIS2
Disease: NEPHRONOPHTHISIS 7 (OMIM:611498)
Association type: MENDELIAN
Gene: GLIS2
Disease: Acute megakaryoblastic leukemia in children without Down syndrome; Acute megakaryoblastic leukemia in children without trisomy 21; Non-DS-AMKL (ORPHA:329469)
Association type: UNKNOWN
Gene: GLIS2
Disease: Juvenile nephronophthisis (ORPHA:93592)
Association type: UNKNOWN
Gene: TGFBR2
Disease: LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Association type: MENDELIAN
Gene: TGFBR2
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: TGFBR2
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 (OMIM:614331)
Association type: MENDELIAN
Gene: TGFBR2
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: TGFBR2
Disease: ESOPHAGEAL CANCER (OMIM:133239)
Association type: MENDELIAN
Gene: TGFBR2
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: TGFBR2
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: TGFBR2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TGFBR2
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: TGFBR2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TGFBR2
Disease: Squamous cell carcinoma of the esophagus; ESCC; Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma (ORPHA:99977)
Association type: UNKNOWN
Gene: TGFBR2
Disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Association type: UNKNOWN
Gene: TGFBR2
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: TGFBR2
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: TGFBR2
Disease: Marfan syndrome type 2; MFS2 (ORPHA:284973)
Association type: UNKNOWN
Gene: SYCP3
Disease: SPERMATOGENIC FAILURE 4 (OMIM:270960)
Association type: MENDELIAN
Gene: SYCP3
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: RASA2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RASA2
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: CBL
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: CBL
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CBL
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CBL
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Association type: MENDELIAN
Gene: CBL
Disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Association type: MENDELIAN
Gene: CBL
Disease: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia; CBL syndrome; Noonan syndrome-like disorder with JMML (ORPHA:363972)
Association type: UNKNOWN
Gene: CBL
Disease: Aggressive systemic mastocytosis (ORPHA:98850)
Association type: UNKNOWN
Gene: CBL
Disease: Juvenile myelomonocytic leukemia; JMML; Juvenile chronic myelomonocytic leukemia (ORPHA:86834)
Association type: UNKNOWN
Gene: CBL
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: MAPK1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: MAPK1
Disease: NOONAN SYNDROME 13 (OMIM:619087)
Association type: MENDELIAN
Gene: MAPK1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MAPK1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MAPK1
Disease: Distal 22q11.2 microdeletion syndrome; Distal del(22)(q11.2); Distal monosomy 22q11.2 (ORPHA:261330)
Association type: UNKNOWN
Gene: PROX1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SVEP1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: ANGPT2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: ANGPT2
Disease: LYMPHATIC MALFORMATION 10 (OMIM:619369)
Association type: MENDELIAN
Gene: ANGPT2
Disease: Non-immune hydrops fetalis; NIHF; Non-immune HF; Non-immune fetal edema; Non-immune fetal hydrops (ORPHA:363999)
Association type: UNKNOWN
Gene: NF1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: NF1
Disease: NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)
Association type: MENDELIAN
Gene: NF1
Disease: NEUROFIBROMATOSIS, FAMILIAL SPINAL (OMIM:162210)
Association type: MENDELIAN
Gene: NF1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NF1
Disease: NEUROFIBROMATOSIS, TYPE I (OMIM:162200)
Association type: MENDELIAN
Gene: NF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NF1
Disease: WATSON SYNDROME (OMIM:193520)
Association type: MENDELIAN
Gene: NF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NF1
Disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Association type: MENDELIAN
Gene: NF1
Disease: 17q11.2 microduplication syndrome; Dup(17)(q11.2); Grisart-Destrée syndrome; Trisomy 17q11.2 (ORPHA:139474)
Association type: UNKNOWN
Gene: NF1
Disease: Juvenile myelomonocytic leukemia; JMML; Juvenile chronic myelomonocytic leukemia (ORPHA:86834)
Association type: UNKNOWN
Gene: NF1
Disease: 17q11 microdeletion syndrome; Del(17)(q11); Monosomy 17q11; NF1 microdeletion syndrome; Neurofibromatosis type 1 microdeletion syndrome (ORPHA:97685)
Association type: UNKNOWN
Gene: NF1
Disease: Neurofibromatosis-Noonan syndrome; NFNS; Neurofibromatosis type 1-Noonan syndrome (ORPHA:638)
Association type: UNKNOWN
Gene: NF1
Disease: Pleomorphic rhabdomyosarcoma (ORPHA:293199)
Association type: UNKNOWN
Gene: NF1
Disease: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion; Von Recklinghausen disease due to NF1 mutation or intragenic deletion (ORPHA:363700)
Association type: UNKNOWN
Gene: NF1
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: NF1
Disease: Embryonal rhabdomyosarcoma (ORPHA:99757)
Association type: UNKNOWN
Gene: NF1
Disease: Alveolar rhabdomyosarcoma (ORPHA:99756)
Association type: UNKNOWN
Gene: FAT4
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: FAT4
Disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Association type: MENDELIAN
Gene: FAT4
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
Association type: MENDELIAN
Gene: FAT4
Disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Association type: UNKNOWN
Gene: FAT4
Disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Association type: UNKNOWN
Gene: EPHB4
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: EPHB4
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 (OMIM:618196)
Association type: MENDELIAN
Gene: EPHB4
Disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Association type: MENDELIAN
Gene: EPHB4
Disease: Vein of Galen aneurysmal malformation; Vein of Galen arteriovenous malformations (ORPHA:1053)
Association type: UNKNOWN
Gene: EPHB4
Disease:  (ORPHA:693912)
Association type: UNKNOWN
Gene: EPHB4
Disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Association type: UNKNOWN
Gene: EPHB4
Disease: EPHB4-related lymphatic-related hydrops fetalis; EPHB4-related LRHF/GLD; EPHB4-related generalized lymphatic dysplasia with atrial septal defect; EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis (ORPHA:568065)
Association type: UNKNOWN
Gene: PTPN11
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: PTPN11
Disease: LEOPARD SYNDROME 1 (OMIM:151100)
Association type: MENDELIAN
Gene: PTPN11
Disease: METACHONDROMATOSIS (OMIM:156250)
Association type: MENDELIAN
Gene: PTPN11
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: PTPN11
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PTPN11
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN