TaoMedAI/RareMedData huggingface dataset:
Gene: PTPN11
Disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Association type: MENDELIAN
Gene: PTPN11
Disease: NOONAN SYNDROME 1 (OMIM:163950)
Association type: MENDELIAN
Gene: PTPN11
Disease: Juvenile myelomonocytic leukemia; JMML; Juvenile chronic myelomonocytic leukemia (ORPHA:86834)
Association type: UNKNOWN
Gene: PTPN11
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: PTPN11
Disease: Metachondromatosis (ORPHA:2499)
Association type: UNKNOWN
Gene: PTPN11
Disease: Noonan syndrome with multiple lentigines; Cardiomyopathic lentiginosis; Familial multiple lentigines syndrome; LEOPARD syndrome (ORPHA:500)
Association type: UNKNOWN
Gene: DCHS1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: DCHS1
Disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Association type: MENDELIAN
Gene: DCHS1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: DCHS1
Disease: MITRAL VALVE PROLAPSE 2 (OMIM:607829)
Association type: MENDELIAN
Gene: DCHS1
Disease: Familial mitral valve prolapse (ORPHA:741)
Association type: UNKNOWN
Gene: DCHS1
Disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Association type: UNKNOWN
Gene: CELSR1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: CELSR1
Disease: LYMPHATIC MALFORMATION 9 (OMIM:619319)
Association type: MENDELIAN
Gene: CELSR1
Disease: CELSR1-related late-onset primary lymphedema (ORPHA:569816)
Association type: UNKNOWN
Gene: MRAS
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: MRAS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MRAS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MRAS
Disease: NOONAN SYNDROME 11 (OMIM:618499)
Association type: MENDELIAN
Gene: MRAS
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: CDC42
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: CDC42
Disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Association type: MENDELIAN
Gene: CDC42
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CDC42
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CDC42
Disease: NOCARH syndrome; Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome; Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome (ORPHA:619363)
Association type: UNKNOWN
Gene: CDC42
Disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Association type: UNKNOWN
Gene: PIEZO1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: PIEZO1
Disease: BLOOD GROUP, ER (OMIM:620207)
Association type: MENDELIAN
Gene: PIEZO1
Disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Association type: MENDELIAN
Gene: PIEZO1
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Association type: MENDELIAN
Gene: PIEZO1
Disease: Dehydrated hereditary stomatocytosis; Hereditary xerocytosis (ORPHA:3202)
Association type: UNKNOWN
Gene: PIEZO1
Disease: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis; Generalized lymphatic dysplasia of Fotiou; PIEZO1-related LRHF/GLD; PIEZO1-related generalized lymphatic dysplasia with systemic involvement; PIEZO1-related lymphatic-related hydrops fetalis (ORPHA:568062)
Association type: UNKNOWN
Gene: FOXC2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: FOXC2
Disease: Lymphedema-distichiasis syndrome (ORPHA:33001)
Association type: UNKNOWN
Gene: GATA2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: GATA2
Disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Association type: POLYGENIC
Gene: GATA2
Disease: IMMUNODEFICIENCY 21 (OMIM:614172)
Association type: MENDELIAN
Gene: GATA2
Disease: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA (OMIM:614038)
Association type: MENDELIAN
Gene: GATA2
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: POLYGENIC
Gene: GATA2
Disease: GATA2 deficiency spectrum; GATA binding protein 2 deficiency spectrum (ORPHA:228423)
Association type: UNKNOWN
Gene: RORC
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RORC
Disease: IMMUNODEFICIENCY 42 (OMIM:616622)
Association type: MENDELIAN
Gene: RORC
Disease: Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; MSMD due to complete RORgamma receptor defiency; Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency; Primary immunodeficiency due to RORC mutation (ORPHA:477857)
Association type: UNKNOWN
Gene: NRP1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: LYVE1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SHOC2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SHOC2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SHOC2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SHOC2
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 (OMIM:607721)
Association type: MENDELIAN
Gene: SHOC2
Disease: Noonan syndrome-like disorder with loose anagen hair; Mazzanti syndrome; NS/LAH (ORPHA:2701)
Association type: UNKNOWN
Gene: RRAS2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RRAS2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RRAS2
Disease: NOONAN SYNDROME 12 (OMIM:618624)
Association type: MENDELIAN
Gene: RRAS2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RRAS2
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: SPRED2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SPRED2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SPRED2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SPRED2
Disease: NOONAN SYNDROME 14 (OMIM:619745)
Association type: MENDELIAN
Gene: SPRED2
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: KIF11
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: KIF11
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: KIF11
Disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Association type: MENDELIAN
Gene: KIF11
Disease: Microcephaly-lymphedema-chorioretinopathy syndrome; MLCRD (ORPHA:2526)
Association type: UNKNOWN
Gene: RIT1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RIT1
Disease: NOONAN SYNDROME 8 (OMIM:615355)
Association type: MENDELIAN
Gene: RIT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RIT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RIT1
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: RRAS
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RRAS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RRAS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RRAS
Disease: Juvenile myelomonocytic leukemia; JMML; Juvenile chronic myelomonocytic leukemia (ORPHA:86834)
Association type: UNKNOWN
Gene: RRAS
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: ARAP3
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: PPP1CB
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: PPP1CB
Disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Association type: MENDELIAN
Gene: PPP1CB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PPP1CB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PPP1CB
Disease: Noonan syndrome-like disorder with loose anagen hair; Mazzanti syndrome; NS/LAH (ORPHA:2701)
Association type: UNKNOWN
Gene: GJC2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: GJC2
Disease: LYMPHATIC MALFORMATION 3 (OMIM:613480)
Association type: MENDELIAN
Gene: GJC2
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 2 (OMIM:608804)
Association type: MENDELIAN
Gene: GJC2
Disease: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (OMIM:613206)
Association type: MENDELIAN
Gene: GJC2
Disease: Pelizaeus-Merzbacher-like disease due to GJC2 mutation; PMLD1 (ORPHA:280282)
Association type: UNKNOWN
Gene: GJC2
Disease: Autosomal recessive spastic paraplegia type 44; SPG44 (ORPHA:320401)
Association type: UNKNOWN
Gene: GJC2
Disease: GJC2-related late-onset primary lymphedema (ORPHA:568051)
Association type: UNKNOWN
Gene: TIE1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: TIE1
Disease: LYMPHATIC MALFORMATION 11 (OMIM:619401)
Association type: MENDELIAN
Gene: ADAMTS3
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: ADAMTS3
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 (OMIM:618154)
Association type: MENDELIAN
Gene: ADAMTS3
Disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Association type: UNKNOWN
Gene: ERG
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: ERG
Disease: LYMPHATIC MALFORMATION 14 (OMIM:620602)
Association type: MENDELIAN
Gene: ERG
Disease: Skeletal Ewing sarcoma; Osseous Ewing sarcoma (ORPHA:319)
Association type: UNKNOWN
Gene: ERG
Disease: Extraskeletal Ewing sarcoma; EOE; Extraosseous Ewing sarcoma; Extraosseous Ewing tumor; Extraskeletal Ewing tumor (ORPHA:370334)
Association type: UNKNOWN
Gene: RASA1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RASA1
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 (OMIM:608354)
Association type: MENDELIAN
Gene: RASA1
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 (OMIM:605462)
Association type: MENDELIAN
Gene: RASA1
Disease:  (ORPHA:693907)
Association type: UNKNOWN
Gene: RASA1
Disease: Parkes Weber syndrome (ORPHA:90307)
Association type: UNKNOWN
Gene: SHANK3
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SHANK3
Disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Association type: MENDELIAN
Gene: SHANK3
Disease: SCHIZOPHRENIA 15 (OMIM:613950)
Association type: POLYGENIC
Gene: SHANK3
Disease: Phelan-McDermid syndrome due to 22q13.3 deletion; 22q13.3 deletion; Chromosome 22q13.3 deletion syndrome (ORPHA:662169)
Association type: UNKNOWN
Gene: SHANK3
Disease: Phelan-McDermid syndrome due to SHANK3 mutation (ORPHA:662172)
Association type: UNKNOWN
Gene: FBXL7
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: NRP2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: MDFIC
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: MDFIC
Disease: LYMPHATIC MALFORMATION 12 (OMIM:620014)
Association type: MENDELIAN
Gene: CHD5
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: CHD5
Disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Association type: MENDELIAN
Gene: CHD5
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: VEGFC
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: VEGFC
Disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Association type: MENDELIAN
Gene: VEGFC
Disease: Congenital primary lymphedema of Gordon; VEGFC-related congenital primary lymphedema (ORPHA:569821)
Association type: UNKNOWN
Gene: CCBE1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: CCBE1
Disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Association type: MENDELIAN
Gene: CCBE1
Disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Association type: UNKNOWN
Gene: PTPN14
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: PTPN14
Disease: CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
Association type: MENDELIAN
Gene: PTPN14
Disease: Lymphedema-posterior choanal atresia syndrome (ORPHA:99141)
Association type: UNKNOWN
Gene: KIF7
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: KIF7
Disease: AL-GAZALI-BAKALINOVA SYNDROME (OMIM:607131)
Association type: MENDELIAN
Gene: KIF7
Disease: HYDROLETHALUS SYNDROME 2 (OMIM:614120)
Association type: MENDELIAN
Gene: KIF7
Disease: ACROCALLOSAL SYNDROME (OMIM:200990)
Association type: MENDELIAN
Gene: KIF7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KIF7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KIF7
Disease: Acrocallosal syndrome; ACS (ORPHA:36)
Association type: UNKNOWN
Gene: KIF7
Disease: Orofaciodigital syndrome type 6; Joubert syndrome with oral-facial-digital syndrome; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi syndrome; Váradi-Papp syndrome (ORPHA:2754)
Association type: UNKNOWN
Gene: KIF7
Disease: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome; Multiple epiphyseal dysplasia, Al-Gazali type (ORPHA:166024)
Association type: UNKNOWN
Gene: KIF7
Disease: Hydrolethalus (ORPHA:2189)
Association type: UNKNOWN
Gene: FLNA
Disease: MELNICK-NEEDLES SYNDROME (OMIM:309350)
Association type: MENDELIAN
Gene: FLNA
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 1 (OMIM:300049)
Association type: MENDELIAN
Gene: FLNA
Disease: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Association type: MENDELIAN
Gene: FLNA
Disease: CARDIAC VALVULAR DYSPLASIA, X-LINKED (OMIM:314400)
Association type: MENDELIAN
Gene: FLNA
Disease: FG SYNDROME 2 (OMIM:300321)
Association type: MENDELIAN
Gene: FLNA
Disease: TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
Association type: MENDELIAN
Gene: FLNA
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: FLNA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FLNA
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1 (OMIM:305620)
Association type: MENDELIAN
Gene: FLNA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FLNA
Disease: OTOPALATODIGITAL SYNDROME, TYPE II (OMIM:304120)
Association type: MENDELIAN
Gene: FLNA
Disease: OTOPALATODIGITAL SYNDROME, TYPE I (OMIM:311300)
Association type: MENDELIAN
Gene: FLNA
Disease: Otopalatodigital syndrome type 1; OPD I syndrome; OPD syndrome 1; Taybi syndrome (ORPHA:90650)
Association type: UNKNOWN
Gene: FLNA
Disease: Otopalatodigital syndrome type 2; OPD II syndrome; OPD syndrome 2 (ORPHA:90652)
Association type: UNKNOWN
Gene: FLNA
Disease: FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia (ORPHA:555877)
Association type: UNKNOWN
Gene: FLNA
Disease: Neuronal intestinal pseudoobstruction (ORPHA:99811)
Association type: UNKNOWN
Gene: FLNA
Disease: Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
Association type: UNKNOWN
Gene: FLNA
Disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Association type: UNKNOWN
Gene: FLNA
Disease: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome (ORPHA:482606)
Association type: UNKNOWN
Gene: FLNA
Disease: Frontometaphyseal dysplasia (ORPHA:1826)
Association type: UNKNOWN
Gene: FLNA
Disease: X-linked Ehlers-Danlos syndrome; EDS V; Ehlers-Danlos syndrome type 5; X-linked EDS (ORPHA:75497)
Association type: UNKNOWN
Gene: FLNA
Disease: Congenital short bowel syndrome (ORPHA:2301)
Association type: UNKNOWN
Gene: FLNA
Disease: Melnick-Needles syndrome; Melnick-Needles osteodysplasty (ORPHA:2484)
Association type: UNKNOWN
Gene: LEMD3
Disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Association type: MENDELIAN
Gene: LEMD3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LEMD3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LEMD3
Disease: Isolated osteopoikilosis (ORPHA:166119)
Association type: UNKNOWN
Gene: LEMD3
Disease: Melorheostosis with osteopoikilosis; MSBD syndrome; Mixed sclerosing bone dystrophy (ORPHA:1879)
Association type: UNKNOWN
Gene: LEMD3
Disease: 12q14 microdeletion syndrome; Del(12)(q14); Deletion 12q14; Monosomy 12q14; Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Association type: UNKNOWN
Gene: SPTA1
Disease: SPHEROCYTOSIS, TYPE 3 (OMIM:270970)
Association type: MENDELIAN
Gene: SPTA1
Disease: ELLIPTOCYTOSIS 2 (OMIM:130600)
Association type: MENDELIAN
Gene: SPTA1
Disease: PYROPOIKILOCYTOSIS, HEREDITARY (OMIM:266140)
Association type: MENDELIAN
Gene: SPTA1
Disease: Hereditary elliptocytosis; HE (ORPHA:288)
Association type: UNKNOWN
Gene: SPTA1
Disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Association type: UNKNOWN
Gene: RNASEH2B
Disease: AICARDI-GOUTIERES SYNDROME 2 (OMIM:610181)
Association type: MENDELIAN
Gene: RNASEH2B
Disease: Aicardi-Goutières syndrome; Encephalopathy with basal ganglia calcification; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid (ORPHA:51)
Association type: UNKNOWN
Gene: RNASEH2B
Disease: RNASEH2B-related hereditary spastic paraplegia (ORPHA:689234)
Association type: UNKNOWN
Gene: NR2F2
Disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Association type: MENDELIAN
Gene: NR2F2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NR2F2
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Association type: MENDELIAN
Gene: NR2F2
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: NR2F2
Disease: Complete atrioventricular septal defect-tetralogy of Fallot; CAVC-tetralogy of Fallot; Complete AVSD-tetralogy of Fallot; Complete atrioventricular canal defect-tetralogy of Fallot (ORPHA:99068)
Association type: UNKNOWN
Gene: WDR81
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Association type: MENDELIAN
Gene: WDR81
Disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Association type: MENDELIAN
Gene: WDR81
Disease: Dysequilibrium syndrome; CAMRQ syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; Non-progressive cerebellar ataxia-intellectual disability syndrome; UTS; Uner Tan syndrome (ORPHA:1766)
Association type: UNKNOWN
Gene: ZFPM2
Disease: DIAPHRAGMATIC HERNIA 3 (OMIM:610187)
Association type: MENDELIAN
Gene: ZFPM2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ZFPM2
Disease: 46,XY SEX REVERSAL 9 (OMIM:616067)
Association type: MENDELIAN
Gene: ZFPM2
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: ZFPM2
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: ZFPM2
Disease: Congenital diaphragmatic hernia; CDH (ORPHA:2140)
Association type: UNKNOWN
Gene: ALOX5
Disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Association type: POLYGENIC
Gene: TNF
Disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Association type: POLYGENIC
Gene: TNF
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Association type: POLYGENIC
Gene: TNF
Disease:  (OMIM:620977)
Association type: MENDELIAN
Gene: TNF
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: HNMT
Disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Association type: POLYGENIC
Gene: HNMT
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
Association type: MENDELIAN
Gene: HNMT
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: MUC7
Disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Association type: POLYGENIC
Gene: SCGB3A2
Disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Association type: POLYGENIC
Gene: HLA-G
Disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Association type: POLYGENIC
Gene: IL13
Disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Association type: POLYGENIC
Gene: IL13
Disease: ALLERGIC RHINITIS (OMIM:607154)
Association type: POLYGENIC
Gene: MASP1
Disease: 3MC SYNDROME 1 (OMIM:257920)
Association type: MENDELIAN
Gene: MASP1
Disease: 3MC syndrome; Craniofacial-ulnar-renal syndrome; Malpuech-Michels-Mingarelli-Carnevale syndrome (ORPHA:293843)
Association type: UNKNOWN
Gene: TANC2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES (OMIM:618906)
Association type: MENDELIAN
Gene: TANC2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PLAG1
Disease: SILVER-RUSSELL SYNDROME 4 (OMIM:618907)
Association type: MENDELIAN
Gene: PLAG1
Disease: SALIVARY GLAND ADENOMA, PLEOMORPHIC (OMIM:181030)
Association type: MENDELIAN
Gene: PLAG1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PLAG1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PLAG1
Disease: Benign epithelial tumor of salivary glands (ORPHA:276148)
Association type: UNKNOWN
Gene: PLAG1
Disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Association type: UNKNOWN
Gene: HMGA2
Disease: SILVER-RUSSELL SYNDROME 5 (OMIM:618908)
Association type: MENDELIAN
Gene: HMGA2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HMGA2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HMGA2
Disease: Benign epithelial tumor of salivary glands (ORPHA:276148)
Association type: UNKNOWN
Gene: HMGA2
Disease: Dedifferentiated liposarcoma; DDLS (ORPHA:99970)
Association type: UNKNOWN
Gene: HMGA2
Disease: Well-differentiated liposarcoma; ALT; Atypical lipoma; Atypical lipomatous tumor; WDLS (ORPHA:99971)
Association type: UNKNOWN
Gene: HMGA2
Disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Association type: UNKNOWN
Gene: HMGA2
Disease: 12q14 microdeletion syndrome; Del(12)(q14); Deletion 12q14; Monosomy 12q14; Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Association type: UNKNOWN
Gene: JAK3
Disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Association type: MENDELIAN
Gene: JAK3
Disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Association type: UNKNOWN
Gene: ABCB4
Disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Association type: MENDELIAN
Gene: ABCB4
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Association type: MENDELIAN
Gene: ABCB4
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Association type: MENDELIAN
Gene: ABCB4
Disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Association type: UNKNOWN
Gene: ABCB4
Disease: Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis; Recurrent intrahepatic cholestasis of pregnancy (ORPHA:69665)
Association type: UNKNOWN