TaoMedAI/RareMedData huggingface dataset:
Gene: GNB3
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: POLYGENIC
Gene: GNB3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GNB3
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: ZP2
Disease: OOCYTE MATURATION DEFECT 6 (OMIM:618353)
Association type: MENDELIAN
Gene: ZP2
Disease: Female infertility due to zona pellucida defect (ORPHA:404466)
Association type: UNKNOWN
Gene: AGBL5
Disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Association type: MENDELIAN
Gene: AGBL5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: AGBL5
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: TNIK
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
Association type: MENDELIAN
Gene: TNIK
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: RPL10L
Disease: SPERMATOGENIC FAILURE 63 (OMIM:619689)
Association type: MENDELIAN
Gene: RPL10L
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: CEP250
Disease: CONE-ROD DYSTROPHY AND HEARING LOSS 2 (OMIM:618358)
Association type: MENDELIAN
Gene: CEP250
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ADRA2A
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8 (OMIM:620679)
Association type: MENDELIAN
Gene: SEC61A1
Disease: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT (OMIM:620674)
Association type: MENDELIAN
Gene: SEC61A1
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 15 (OMIM:620670)
Association type: MENDELIAN
Gene: SEC61A1
Disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 (OMIM:617056)
Association type: MENDELIAN
Gene: SEC61A1
Disease:  (ORPHA:697417)
Association type: UNKNOWN
Gene: RBL2
Disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Association type: MENDELIAN
Gene: EYS
Disease: RETINITIS PIGMENTOSA 25 (OMIM:602772)
Association type: MENDELIAN
Gene: EYS
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: EYS
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: COLGALT1
Disease: BRAIN SMALL VESSEL DISEASE 3 (OMIM:618360)
Association type: MENDELIAN
Gene: COLGALT1
Disease: Familial porencephaly (ORPHA:99810)
Association type: UNKNOWN
Gene: SELENON
Disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Association type: MENDELIAN
Gene: SELENON
Disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Association type: UNKNOWN
Gene: SELENON
Disease: Congenital fiber-type disproportion myopathy; CFTDM (ORPHA:2020)
Association type: UNKNOWN
Gene: SELENON
Disease: Desmin-related myopathy with Mallory body-like inclusions; Early-onset desmin-related myopathy (ORPHA:84132)
Association type: UNKNOWN
Gene: SELENON
Disease: Classic multiminicore myopathy; Classic MmD; Classic multiminicore disease (ORPHA:324604)
Association type: UNKNOWN
Gene: MBD5
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 (OMIM:156200)
Association type: MENDELIAN
Gene: MBD5
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: MBD5
Disease: 2q23.1 microdeletion syndrome; Del(2)(q23.1); Monosomy 2q23.1; Pseudo-Angelman syndrome (ORPHA:228402)
Association type: UNKNOWN
Gene: PRKN
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
Association type: MENDELIAN
Gene: PRKN
Disease: OVARIAN CANCER (OMIM:167000)
Association type: MENDELIAN
Gene: PRKN
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: PRKN
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: FBXO43
Disease: SPERMATOGENIC FAILURE 64 (OMIM:619696)
Association type: MENDELIAN
Gene: FBXO43
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12 (OMIM:619697)
Association type: MENDELIAN
Gene: FBXO43
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: ARSK
Disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Association type: MENDELIAN
Gene: ARSK
Disease: Mucopolysaccharidosis type 10; Mucopolysaccharidosis type X, MSP type X,MPS10 Mucopolysaccharidosis due to ARSK deficiency (ORPHA:662216)
Association type: UNKNOWN
Gene: MTHFS
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION (OMIM:618367)
Association type: MENDELIAN
Gene: MTHFS
Disease: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome (ORPHA:597874)
Association type: UNKNOWN
Gene: ANAPC7
Disease: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME (OMIM:619699)
Association type: MENDELIAN
Gene: ADSS1
Disease: MYOPATHY, DISTAL, 5 (OMIM:617030)
Association type: MENDELIAN
Gene: ADSS1
Disease: Adenylosuccinate synthetase-like 1-related distal myopathy; ADSSL1-related distal myopathy (ORPHA:482601)
Association type: UNKNOWN
Gene: RAB3GAP1
Disease: WARBURG MICRO SYNDROME 1 (OMIM:600118)
Association type: MENDELIAN
Gene: RAB3GAP1
Disease: MARTSOLF SYNDROME 2 (OMIM:619420)
Association type: MENDELIAN
Gene: RAB3GAP1
Disease: Micro syndrome; WARBM; Warburg micro syndrome (ORPHA:2510)
Association type: UNKNOWN
Gene: RAB3GAP1
Disease: Cataract-intellectual disability-hypogonadism syndrome; Martsolf syndrome (ORPHA:1387)
Association type: UNKNOWN
Gene: SLC39A7
Disease: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE (OMIM:619693)
Association type: MENDELIAN
Gene: SLC39A7
Disease:  (ORPHA:693627)
Association type: UNKNOWN
Gene: SMARCC2
Disease: COFFIN-SIRIS SYNDROME 8 (OMIM:618362)
Association type: MENDELIAN
Gene: SMARCC2
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: LMBRD2
Disease: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES (OMIM:619694)
Association type: MENDELIAN
Gene: LMBRD2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SLC10A7
Disease: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS (OMIM:618363)
Association type: MENDELIAN
Gene: SLC10A7
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: SLC10A7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC10A7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC10A7
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: PRDM6
Disease: PATENT DUCTUS ARTERIOSUS 3 (OMIM:617039)
Association type: MENDELIAN
Gene: PRDM6
Disease: Familial patent arterial duct (ORPHA:466729)
Association type: UNKNOWN
Gene: AKR1D1
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Association type: MENDELIAN
Gene: AKR1D1
Disease: Congenital bile acid synthesis defect type 2; BASD2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency (ORPHA:79303)
Association type: UNKNOWN
Gene: GDAP2
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 (OMIM:618369)
Association type: MENDELIAN
Gene: HNRNPC
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Association type: MENDELIAN
Gene: HNRNPC
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SP110
Disease: HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY (OMIM:235550)
Association type: MENDELIAN
Gene: SP110
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: SP110
Disease: Hepatic veno-occlusive disease-immunodeficiency syndrome; VODI syndrome (ORPHA:79124)
Association type: UNKNOWN
Gene: PLAAT3
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Association type: MENDELIAN
Gene: PLAAT3
Disease: Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome; PLAAT3-related lipodystrophy syndrome (ORPHA:686999)
Association type: UNKNOWN
Gene: NHLRC1
Disease: MYOCLONIC EPILEPSY OF LAFORA 2 (OMIM:620681)
Association type: MENDELIAN
Gene: NHLRC1
Disease: Lafora disease; EPM2; PME type 2; Progressive myoclonic epilepsy type 2; Progressive myoclonus epilepsy type 2 (ORPHA:501)
Association type: UNKNOWN
Gene: PCYT1A
Disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 (OMIM:620680)
Association type: MENDELIAN
Gene: PCYT1A
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY (OMIM:608940)
Association type: MENDELIAN
Gene: PCYT1A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PCYT1A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PCYT1A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PCYT1A
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: PCYT1A
Disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome; SMD-CRD (ORPHA:85167)
Association type: UNKNOWN
Gene: KCNQ4
Disease: DEAFNESS, AUTOSOMAL DOMINANT 2A (OMIM:600101)
Association type: MENDELIAN
Gene: KCNQ4
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: PCGF2
Disease: TURNPENNY-FRY SYNDROME (OMIM:618371)
Association type: MENDELIAN
Gene: PCGF2
Disease: Turnpenny-Fry syndrome; PCGF2-related disorder; TPFS (ORPHA:688642)
Association type: UNKNOWN
Gene: TKT
Disease: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS (OMIM:617044)
Association type: MENDELIAN
Gene: TKT
Disease: Transketolase deficiency; Short stature-developmental delay-congenital heart defect syndrome; TKT deficiency (ORPHA:488618)
Association type: UNKNOWN
Gene: MRPS14
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 (OMIM:618378)
Association type: MENDELIAN
Gene: RNF13
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Association type: MENDELIAN
Gene: RNF13
Disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Association type: UNKNOWN
Gene: PLA2G4A
Disease: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS (OMIM:618372)
Association type: MENDELIAN
Gene: PLA2G4A
Disease: Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder; PLA2G4A-related platelet dysfunction; Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency (ORPHA:477787)
Association type: UNKNOWN
Gene: PLA2G4A
Disease: Cryptogenic multifocal ulcerous stenosing enteritis; CMUSE (ORPHA:468635)
Association type: UNKNOWN
Gene: NEUROD2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72 (OMIM:618374)
Association type: MENDELIAN
Gene: NEUROD2
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: FARS2
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
Association type: MENDELIAN
Gene: FARS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 (OMIM:614946)
Association type: MENDELIAN
Gene: FARS2
Disease: Autosomal recessive spastic paraplegia type 77; SPG77 (ORPHA:466722)
Association type: UNKNOWN
Gene: FARS2
Disease: Combined oxidative phosphorylation defect type 14; COXPD14 (ORPHA:319519)
Association type: UNKNOWN
Gene: NR1H4
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 (OMIM:617049)
Association type: MENDELIAN
Gene: NR1H4
Disease: Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis; Recurrent intrahepatic cholestasis of pregnancy (ORPHA:69665)
Association type: UNKNOWN
Gene: NR1H4
Disease: Progressive familial intrahepatic cholestasis type 5; NR1H4 deficiency; PFIC5 (ORPHA:480476)
Association type: UNKNOWN
Gene: BCKDHB
Disease: MAPLE SYRUP URINE DISEASE, TYPE IB (OMIM:620698)
Association type: MENDELIAN
Gene: BCKDHB
Disease: Classic maple syrup urine disease; Classic BCKD deficiency; Classic MSUD; Classic branched-chain alpha-ketoacid dehydrogenase deficiency; Classic branched-chain ketoaciduria (ORPHA:268145)
Association type: UNKNOWN
Gene: BCKDHB
Disease: Intermediate maple syrup urine disease; Intermediate BCKD deficiency; Intermediate MSUD; Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency (ORPHA:268162)
Association type: UNKNOWN
Gene: BCKDHB
Disease: Intermittent maple syrup urine disease; Intermittent BCKD deficiency; Intermittent MSUD; Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency (ORPHA:268173)
Association type: UNKNOWN
Gene: DBT
Disease: MAPLE SYRUP URINE DISEASE, TYPE II (OMIM:620699)
Association type: MENDELIAN
Gene: DBT
Disease: Classic maple syrup urine disease; Classic BCKD deficiency; Classic MSUD; Classic branched-chain alpha-ketoacid dehydrogenase deficiency; Classic branched-chain ketoaciduria (ORPHA:268145)
Association type: UNKNOWN
Gene: DBT
Disease: Intermediate maple syrup urine disease; Intermediate BCKD deficiency; Intermediate MSUD; Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency (ORPHA:268162)
Association type: UNKNOWN
Gene: DBT
Disease: Intermittent maple syrup urine disease; Intermittent BCKD deficiency; Intermittent MSUD; Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency (ORPHA:268173)
Association type: UNKNOWN
Gene: DBT
Disease: Thiamine-responsive maple syrup urine disease; Thiamine-responsive BCKD deficiency; Thiamine-responsive MSUD; Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency (ORPHA:268184)
Association type: UNKNOWN
Gene: LRP1
Disease: DEVELOPMENTAL DYSPLASIA OF THE HIP 3 (OMIM:620690)
Association type: MENDELIAN
Gene: LRP1
Disease: KERATOSIS PILARIS ATROPHICANS (OMIM:604093)
Association type: MENDELIAN
Gene: LRP1
Disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Association type: UNKNOWN
Gene: LRP1
Disease: Atrophoderma vermiculata; Folliculitis ulerythematosa reticulate (ORPHA:79100)
Association type: UNKNOWN
Gene: KCNK4
Disease: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME (OMIM:618381)
Association type: MENDELIAN
Gene: KCNK4
Disease: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome; FHEIG syndrome (ORPHA:598603)
Association type: UNKNOWN
Gene: PUS3
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Association type: MENDELIAN
Gene: PUS3
Disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Association type: UNKNOWN
Gene: AP3D1
Disease: HERMANSKY-PUDLAK SYNDROME 10 (OMIM:617050)
Association type: MENDELIAN
Gene: AP3D1
Disease: X-linked recessive ocular albinism; OA1; Ocular albinism type 1; Ocular albinism, Nettleship-Falls type; XLOA (ORPHA:54)
Association type: UNKNOWN
Gene: AP3D1
Disease: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency; Early-onset severe Hermansky-Pudlak syndrome with deafness; Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency; Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency; HPS10; Hermansky-Pudlak syndrome type 10 (ORPHA:664511)
Association type: UNKNOWN
Gene: AP3D1
Disease: Ocular albinism with late-onset sensorineural deafness; Ocular albinism with late-onset sensorineural hearing loss (ORPHA:1000)
Association type: UNKNOWN
Gene: COA7
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 (OMIM:618387)
Association type: MENDELIAN
Gene: VAC14
Disease: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET (OMIM:617054)
Association type: MENDELIAN
Gene: VAC14
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: VAC14
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: VAC14
Disease: Childhood-onset basal ganglia degeneration syndrome; Lenk-Ploski syndrome (ORPHA:497906)
Association type: UNKNOWN
Gene: VAC14
Disease: Yunis-Varon syndrome; Cleidocranial dysplasia-micrognathia-absent thumbs syndrome (ORPHA:3472)
Association type: UNKNOWN
Gene: CEBPE
Disease: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION (OMIM:260570)
Association type: MENDELIAN
Gene: CEBPE
Disease: SPECIFIC GRANULE DEFICIENCY 1 (OMIM:245480)
Association type: MENDELIAN
Gene: CEBPE
Disease: Recurrent infections due to specific granule deficiency; Neutrophil-specific granule deficiency (ORPHA:169142)
Association type: UNKNOWN
Gene: CEBPE
Disease: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome; CAIN (ORPHA:566067)
Association type: UNKNOWN
Gene: DNAJC21
Disease: BONE MARROW FAILURE SYNDROME 3 (OMIM:617052)
Association type: MENDELIAN
Gene: DNAJC21
Disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Association type: MENDELIAN
Gene: DNAJC21
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DNAJC21
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DNAJC21
Disease: Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; SDS; Shwachman syndrome; Shwachman-Bodian-Diamond syndrome (ORPHA:811)
Association type: UNKNOWN
Gene: ZBTB11
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69 (OMIM:618383)
Association type: MENDELIAN
Gene: SLC13A3
Disease: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE (OMIM:618384)
Association type: MENDELIAN
Gene: RELT
Disease: AMELOGENESIS IMPERFECTA, TYPE IIIC (OMIM:618386)
Association type: MENDELIAN
Gene: RELT
Disease: Hypoplastic amelogenesis imperfecta; Amelogenesis imperfecta type 1 (ORPHA:100031)
Association type: UNKNOWN
Gene: PRKCSH
Disease: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS (OMIM:174050)
Association type: MENDELIAN
Gene: PRKCSH
Disease: Isolated polycystic liver disease; ADPCLD; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Association type: UNKNOWN
Gene: HYMAI
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Association type: MENDELIAN
Gene: HYMAI
Disease: Transient neonatal diabetes mellitus; TNDM (ORPHA:99886)
Association type: UNKNOWN
Gene: HYMAI
Disease: Paternal uniparental disomy of chromosome 6 syndrome; UPD(6)pat (ORPHA:96191)
Association type: UNKNOWN
Gene: PLAGL1
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Association type: POLYGENIC
Gene: PLAGL1
Disease: Transient neonatal diabetes mellitus; TNDM (ORPHA:99886)
Association type: UNKNOWN
Gene: PLAGL1
Disease: Paternal uniparental disomy of chromosome 6 syndrome; UPD(6)pat (ORPHA:96191)
Association type: UNKNOWN
Gene: ZFP57
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 1 (OMIM:601410)
Association type: MENDELIAN
Gene: ZFP57
Disease: Transient neonatal diabetes mellitus; TNDM (ORPHA:99886)
Association type: UNKNOWN
Gene: NUP88
Disease: FETAL AKINESIA DEFORMATION SEQUENCE 4 (OMIM:618393)
Association type: MENDELIAN
Gene: NUP88
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: CSNK2A1
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
Association type: MENDELIAN
Gene: CSNK2A1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PRPF3
Disease: RETINITIS PIGMENTOSA 18 (OMIM:601414)
Association type: MENDELIAN
Gene: PRPF3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRPF3
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: LMX1A
Disease: DEAFNESS, AUTOSOMAL DOMINANT 7 (OMIM:601412)
Association type: MENDELIAN
Gene: HAVCR2
Disease: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE (OMIM:618398)
Association type: MENDELIAN
Gene: HAVCR2
Disease: Subcutaneous panniculitis-like T-cell lymphoma; SPTCL; Subcutaneous panniculitic T-cell lymphoma (ORPHA:86884)
Association type: UNKNOWN
Gene: GUF1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40 (OMIM:617065)
Association type: MENDELIAN
Gene: GUF1
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: CDC45
Disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Association type: MENDELIAN
Gene: CDC45
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CDC45
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CDC45
Disease: Ear-patella-short stature syndrome; Meier-Gorlin syndrome (ORPHA:2554)
Association type: UNKNOWN
Gene: BACH2
Disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Association type: MENDELIAN
Gene: ZNHIT3
Disease: PEHO SYNDROME (OMIM:260565)
Association type: MENDELIAN
Gene: ZNHIT3
Disease: PEHO syndrome; Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (ORPHA:2836)
Association type: UNKNOWN
Gene: EXOC6B
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 (OMIM:618395)
Association type: MENDELIAN
Gene: EXOC6B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EXOC6B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EXOC6B
Disease: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity; EXOC6B-SEMD-JL; SEMD-JL3; SEMDJL3; Spondyloepimetaphyseal dysplasia with joint laxity type 3 (ORPHA:642085)
Association type: UNKNOWN
Gene: GABRG2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74 (OMIM:618396)
Association type: MENDELIAN
Gene: GABRG2
Disease: FEBRILE SEIZURES, FAMILIAL, 8 (OMIM:607681)
Association type: MENDELIAN
Gene: GABRG2
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: GABRG2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: GABRG2
Disease: Self-limited epilepsy with centrotemporal spikes; BECRS; BECTS; BRE; Benign epilepsy of childhood with centrotemporal spikes; Benign familial epilepsy of childhood with rolandic spikes; Benign rolandic epilepsy; Centrotemporal epilepsy; Rolandic epilepsy; SeLECTS (ORPHA:1945)
Association type: UNKNOWN
Gene: GABRG2
Disease: Childhood absence epilepsy; Pyknolepsy (ORPHA:64280)
Association type: UNKNOWN
Gene: GABRG2
Disease: Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy; Severe myoclonus epilepsy of infancy (ORPHA:33069)
Association type: UNKNOWN
Gene: GFM2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Association type: MENDELIAN
Gene: GFM2
Disease: Combined oxidative phosphorylation defect type 39; COXPD39; GFM2-related combined oxidative phosphorylation defect (ORPHA:565624)
Association type: UNKNOWN
Gene: TOR1AIP1
Disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Association type: MENDELIAN
Gene: TOR1AIP1
Disease: TOR1AIP1-related limb-girdle muscular dystrophy; Autosomal recessive limb-girdle muscular dystrophy type 2Y; Autosomal recessive muscular dystrophy due to LAP1B deficiency; Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; LGMD type 2Y; LGMD2Y; Muscular dystrophy with progressive weakness, distal contractures and rigid spine; TOR1AIP1-related LGMD (ORPHA:424261)
Association type: UNKNOWN
Gene: MST1R
Disease: NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3 (OMIM:617075)
Association type: POLYGENIC
Gene: FBP1
Disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Association type: MENDELIAN