TaoMedAI/RareMedData huggingface dataset:
Gene: TGFB3
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: TGFB3
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: NPR2
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: NPR2
Disease: SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES (OMIM:616255)
Association type: MENDELIAN
Gene: NPR2
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: NPR2
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: NPR2
Disease: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE (OMIM:615923)
Association type: MENDELIAN
Gene: NPR2
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: NPR2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NPR2
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: NPR2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NPR2
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE (OMIM:602875)
Association type: MENDELIAN
Gene: NPR2
Disease: Acromesomelic dysplasia, Maroteaux type (ORPHA:40)
Association type: UNKNOWN
Gene: NPR2
Disease: Tall stature-long halluces-multiple extra-epiphyses syndrome; Tall stature-scoliosis-macrodactyly of the halluces syndrome (ORPHA:329191)
Association type: UNKNOWN
Gene: ABL1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: ABL1
Disease: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME (OMIM:617602)
Association type: MENDELIAN
Gene: ABL1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: ABL1
Disease: LEUKEMIA, CHRONIC MYELOID (OMIM:608232)
Association type: MENDELIAN
Gene: ABL1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: ABL1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ABL1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: ABL1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: ABL1
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: ABL1
Disease: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); B-ALL with t(9;22)(q34.1;q11.2); BCR-ABL1-like B-ALL; Philadelphia chromosome-like B-ALL (ORPHA:585909)
Association type: UNKNOWN
Gene: ABL1
Disease: Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome (ORPHA:643503)
Association type: UNKNOWN
Gene: ABL1
Disease: Chronic myeloid leukemia; CML; Chronic granulocytic leukemia; Chronic myelogenous leukemia (ORPHA:521)
Association type: UNKNOWN
Gene: SMAD2
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: SMAD2
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: SMAD2
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: SMAD2
Disease: LOEYS-DIETZ SYNDROME 6 (OMIM:619656)
Association type: MENDELIAN
Gene: SMAD2
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY (OMIM:619657)
Association type: MENDELIAN
Gene: SMAD2
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: SMAD2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMAD2
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: SMAD2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMAD2
Disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Association type: UNKNOWN
Gene: SMAD2
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: SCN2A
Disease: EPISODIC ATAXIA, TYPE 9 (OMIM:618924)
Association type: MENDELIAN
Gene: SCN2A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11 (OMIM:613721)
Association type: MENDELIAN
Gene: SCN2A
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 (OMIM:607745)
Association type: MENDELIAN
Gene: SCN2A
Disease: Self-limited infantile epilepsy; BFIE; BFIS; Benign familial infantile convulsions; Benign familial infantile epilepsy; Benign familial infantile seizures; SeLIE (ORPHA:306)
Association type: UNKNOWN
Gene: SCN2A
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: SCN2A
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: SCN2A
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: SCN2A
Disease: Epilepsy of infancy with migrating focal seizures; EIMFS; Epilepsy with migrating focal seizure in infancy; MMPEI; MMPSI; MPEI; MPSI; Malignant migrating partial epilepsy of infancy; Malignant migrating partial seizures of infancy; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Association type: UNKNOWN
Gene: SCN2A
Disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Association type: UNKNOWN
Gene: SCN2A
Disease: Alternating hemiplegia of childhood; AHC (ORPHA:2131)
Association type: UNKNOWN
Gene: SCN2A
Disease: Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy; Severe myoclonus epilepsy of infancy (ORPHA:33069)
Association type: UNKNOWN
Gene: CDH2
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 (OMIM:618920)
Association type: MENDELIAN
Gene: CDH2
Disease: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME (OMIM:618929)
Association type: MENDELIAN
Gene: CDH2
Disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER 8 (OMIM:619957)
Association type: MENDELIAN
Gene: CDH2
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: PYGM
Disease: GLYCOGEN STORAGE DISEASE V (OMIM:232600)
Association type: MENDELIAN
Gene: PYGM
Disease: Glycogen storage disease due to muscle glycogen phosphorylase deficiency; GSD due to muscle glycogen phosphorylase deficiency; GSD type 5; GSD type V; Glycogen storage disease type 5; Glycogen storage disease type V; Glycogenosis due to muscle glycogen phosphorylase deficiency; Glycogenosis type 5; Glycogenosis type V; McArdle disease; Myophosphorylase deficiency (ORPHA:368)
Association type: UNKNOWN
Gene: GRM7
Disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES (OMIM:618922)
Association type: MENDELIAN
Gene: GRM7
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: GRM7
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: MRE11
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Association type: MENDELIAN
Gene: MRE11
Disease: Nijmegen breakage syndrome-like disorder; Microcephaly and chromosomal instability without immunodeficiency; NBS-like disorder; NBSLD; RAD50 deficiency (ORPHA:240760)
Association type: UNKNOWN
Gene: MRE11
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: MRE11
Disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Association type: UNKNOWN
Gene: AIPL1
Disease: LEBER CONGENITAL AMAUROSIS 4 (OMIM:604393)
Association type: MENDELIAN
Gene: AIPL1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: AIPL1
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: AIPL1
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: AIPL1
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: IFT122
Disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Association type: MENDELIAN
Gene: IFT122
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFT122
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IFT122
Disease: Cranioectodermal dysplasia; CED; Sensenbrenner syndrome (ORPHA:1515)
Association type: UNKNOWN
Gene: IFT122
Disease: Short rib-polydactyly syndrome, Beemer-Langer type; Short rib-polydactyly syndrome type 4 (ORPHA:93268)
Association type: UNKNOWN
Gene: C2
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
Association type: MENDELIAN
Gene: C2
Disease: MACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)
Association type: POLYGENIC
Gene: C2
Disease: Immunodeficiency due to a classical component pathway complement deficiency; Immunodeficiency due to C1, C4, or C2 component complement deficiency; Immunodeficiency due to an early component of complement deficiency (ORPHA:169147)
Association type: UNKNOWN
Gene: CYBC1
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 (OMIM:618935)
Association type: MENDELIAN
Gene: CYBC1
Disease: Chronic granulomatous disease; CGD; Chronic septic granulomatosis (ORPHA:379)
Association type: UNKNOWN
Gene: KCNQ5
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 (OMIM:617601)
Association type: MENDELIAN
Gene: KCNQ5
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: CIC
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 (OMIM:617600)
Association type: MENDELIAN
Gene: CIC
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: CLDN19
Disease: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT (OMIM:248190)
Association type: MENDELIAN
Gene: CLDN19
Disease: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement; FHHNC with severe ocular involvement; Hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome (ORPHA:2196)
Association type: UNKNOWN
Gene: SLC44A4
Disease: DEAFNESS, AUTOSOMAL DOMINANT 72 (OMIM:617606)
Association type: MENDELIAN
Gene: SLC44A4
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: DMXL2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 71 (OMIM:617605)
Association type: MENDELIAN
Gene: DMXL2
Disease: POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
Association type: MENDELIAN
Gene: DMXL2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81 (OMIM:618663)
Association type: MENDELIAN
Gene: DMXL2
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: DMXL2
Disease: Polyendocrine-polyneuropathy syndrome (ORPHA:453533)
Association type: UNKNOWN
Gene: DMXL2
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: DONSON
Disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Association type: MENDELIAN
Gene: DONSON
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DONSON
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DONSON
Disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Association type: MENDELIAN
Gene: DONSON
Disease: Microcephaly-short stature-limb abnormalities syndrome; MISSLA (ORPHA:572773)
Association type: UNKNOWN
Gene: DONSON
Disease: Microcephaly-micromelia syndrome; MIMIS (ORPHA:572768)
Association type: UNKNOWN
Gene: MAGI2
Disease: NEPHROTIC SYNDROME, TYPE 15 (OMIM:617609)
Association type: MENDELIAN
Gene: MAGI2
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: AMTN
Disease: AMELOGENESIS IMPERFECTA, TYPE IIIB (OMIM:617607)
Association type: MENDELIAN
Gene: AMTN
Disease: Hypocalcified amelogenesis imperfecta; Amelogenesis imperfecta type 3 (ORPHA:100032)
Association type: UNKNOWN
Gene: POLR1B
Disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Association type: MENDELIAN
Gene: POLR1B
Disease: Treacher-Collins syndrome; Franceschetti-Klein syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Association type: UNKNOWN
Gene: ACTB
Disease: BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Association type: MENDELIAN
Gene: ACTB
Disease: BECKER NEVUS SYNDROME (OMIM:604919)
Association type: MENDELIAN
Gene: ACTB
Disease: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY (OMIM:620475)
Association type: MENDELIAN
Gene: ACTB
Disease: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY (OMIM:620470)
Association type: MENDELIAN
Gene: ACTB
Disease: DYSTONIA, JUVENILE-ONSET (OMIM:607371)
Association type: MENDELIAN
Gene: ACTB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ACTB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ACTB
Disease: Becker nevus syndrome; Becker melanosis; Becker naevus syndrome; Pigmentary hairy epidermal nevus; Pigmented hairy epidermal naevus; Pigmented hairy epidermal nevus (ORPHA:64755)
Association type: UNKNOWN
Gene: ACTB
Disease: Actinomyopathy-associated syndromic thrombocytopenia; ACTB-AST (ORPHA:674653)
Association type: UNKNOWN
Gene: ACTB
Disease: Developmental malformations-deafness-dystonia syndrome; Developmental malformations-hearing loss-dystonia syndrome (ORPHA:79107)
Association type: UNKNOWN
Gene: ACTB
Disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Association type: UNKNOWN
Gene: ACTB
Disease: Pseudomyogenic hemangioendothelioma (ORPHA:673556)
Association type: UNKNOWN
Gene: SCO2
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Association type: MENDELIAN
Gene: SCO2
Disease: MYOPIA 6 (OMIM:608908)
Association type: MENDELIAN
Gene: SCO2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SCO2
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: SCO2
Disease: Rare isolated myopia (ORPHA:98619)
Association type: UNKNOWN
Gene: SCO2
Disease: Fatal infantile cytochrome C oxidase deficiency; Fatal infantile COX deficiency; Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency (ORPHA:1561)
Association type: UNKNOWN
Gene: SCO2
Disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Association type: UNKNOWN
Gene: LIPH
Disease: HYPOTRICHOSIS 7 (OMIM:604379)
Association type: MENDELIAN
Gene: LIPH
Disease: Woolly hair; Familial woolly hair syndrome; Familial wooly hair syndrome; Hereditary woolly hair syndrome; Hereditary wooly hair syndrome; Wooly hair (ORPHA:170)
Association type: UNKNOWN
Gene: LIPH
Disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Association type: UNKNOWN
Gene: GIPC1
Disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Association type: MENDELIAN
Gene: GIPC1
Disease: Oculopharyngodistal myopathy; OPDM; Oculopharyngeal distal myopathy (ORPHA:98897)
Association type: UNKNOWN
Gene: ISCA1
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (OMIM:617613)
Association type: MENDELIAN
Gene: ISCA1
Disease: Multiple mitochondrial dysfunctions syndrome type 5; ISCA1 deficiency; MMDS5 (ORPHA:569274)
Association type: UNKNOWN
Gene: FUCA1
Disease: FUCOSIDOSIS (OMIM:230000)
Association type: MENDELIAN
Gene: FUCA1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FUCA1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FUCA1
Disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Association type: UNKNOWN
Gene: MNS1
Disease: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:618948)
Association type: MENDELIAN
Gene: DZIP1L
Disease: POLYCYSTIC KIDNEY DISEASE 5 (OMIM:617610)
Association type: MENDELIAN
Gene: DZIP1L
Disease: Autosomal recessive polycystic kidney disease; AR-PKD (ORPHA:731)
Association type: UNKNOWN
Gene: WDR26
Disease: SKRABAN-DEARDORFF SYNDROME (OMIM:617616)
Association type: MENDELIAN
Gene: WDR26
Disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome; Skraban-Deardorff syndrome (ORPHA:513456)
Association type: UNKNOWN
Gene: IL6R
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Association type: MENDELIAN
Gene: IL6R
Disease: INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS (OMIM:614752)
Association type: MENDELIAN
Gene: IL6R
Disease: SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS (OMIM:614689)
Association type: MENDELIAN
Gene: IL6R
Disease: Autosomal recessive combined immunodeficiency due to IL6R deficiency; AR CID due to IL6R deficiency; Autosomal recessive combined immunodeficiency due to  IL6 receptor protein deficiency (ORPHA:656326)
Association type: UNKNOWN
Gene: TYMP
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Association type: MENDELIAN
Gene: TYMP
Disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Association type: UNKNOWN
Gene: POLG
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Association type: MENDELIAN
Gene: POLG
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 (OMIM:258450)
Association type: MENDELIAN
Gene: POLG
Disease: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS (OMIM:607459)
Association type: MENDELIAN
Gene: POLG
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1 (OMIM:157640)
Association type: MENDELIAN
Gene: POLG
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Association type: MENDELIAN
Gene: POLG
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Association type: MENDELIAN
Gene: POLG
Disease: Recessive mitochondrial ataxia syndrome; MIRAS (ORPHA:94125)
Association type: UNKNOWN
Gene: POLG
Disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Association type: UNKNOWN
Gene: POLG
Disease: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; SANDO (ORPHA:70595)
Association type: UNKNOWN
Gene: POLG
Disease: Alpers-Huttenlocher syndrome; Alpers progressive sclerosing poliodystrophy; Alpers syndrome; Progressive neuronal degeneration of childhood with liver disease (ORPHA:726)
Association type: UNKNOWN
Gene: POLG
Disease: Progressive myoclonic epilepsy type 5; EPM5; PME type 5; Progressive myoclonus epilepsy type 5 (ORPHA:402082)
Association type: UNKNOWN
Gene: POLG
Disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Association type: UNKNOWN
Gene: POLG
Disease: Spinocerebellar ataxia with epilepsy; MSCAE; Mitochondrial spinocerebellar ataxia with epilepsy; SCAE (ORPHA:254881)
Association type: UNKNOWN
Gene: POLG
Disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Association type: UNKNOWN
Gene: CLCN1
Disease: BATTEN-TURNER CONGENITAL MYOPATHY (OMIM:255300)
Association type: MENDELIAN
Gene: CLCN1
Disease: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE (OMIM:255700)
Association type: MENDELIAN
Gene: CLCN1
Disease: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
Association type: MENDELIAN
Gene: CLCN1
Disease: Thomsen and Becker disease; Myotonia congenita (ORPHA:614)
Association type: UNKNOWN
Gene: SLC17A5
Disease: SALLA DISEASE (OMIM:604369)
Association type: MENDELIAN
Gene: SLC17A5
Disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Association type: MENDELIAN
Gene: SLC17A5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC17A5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC17A5
Disease: Intermediate severe Salla disease (ORPHA:309331)
Association type: UNKNOWN
Gene: SLC17A5
Disease: Salla disease (ORPHA:309334)
Association type: UNKNOWN
Gene: SLC17A5
Disease: Free sialic acid storage disease, infantile form; ISSD (ORPHA:309324)
Association type: UNKNOWN
Gene: TASP1
Disease: SULEIMAN-EL-HATTAB SYNDROME (OMIM:618950)
Association type: MENDELIAN
Gene: MRPL12
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Association type: MENDELIAN
Gene: MRPS28
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (OMIM:618958)
Association type: MENDELIAN
Gene: ARMC9
Disease: JOUBERT SYNDROME 30 (OMIM:617622)
Association type: MENDELIAN
Gene: ARMC9
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: MDH1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88 (OMIM:618959)
Association type: MENDELIAN
Gene: GATA3
Disease: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE (OMIM:146255)
Association type: MENDELIAN
Gene: GATA3
Disease: B-lymphoblastic leukemia/lymphoma with hyperdiploidy (ORPHA:585936)
Association type: UNKNOWN
Gene: GATA3
Disease: Hypoparathyroidism-sensorineural deafness-renal disease syndrome; Barakat syndrome; HDR syndrome; Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome (ORPHA:2237)
Association type: UNKNOWN
Gene: MRPS23
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 (OMIM:618952)
Association type: MENDELIAN
Gene: REST
Disease: FIBROMATOSIS, GINGIVAL, 5 (OMIM:617626)
Association type: MENDELIAN
Gene: REST
Disease: WILMS TUMOR 6 (OMIM:616806)
Association type: POLYGENIC
Gene: REST
Disease: DEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
Association type: MENDELIAN
Gene: REST
Disease: Hereditary gingival fibromatosis; Autosomal dominant gingival fibromatosis; Autosomal dominant gingival hyperplasia; Hereditary gingival hyperplasia (ORPHA:2024)
Association type: UNKNOWN
Gene: REST
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: KIF3B
Disease: RETINITIS PIGMENTOSA 89 (OMIM:618955)
Association type: MENDELIAN
Gene: KIF3B
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: DEPDC5
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 (OMIM:604364)
Association type: MENDELIAN
Gene: DEPDC5
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111 (OMIM:620504)
Association type: MENDELIAN