TaoMedAI/RareMedData huggingface dataset:
Gene: PDGFB
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: PDGFB
Disease: Familial multiple meningioma (ORPHA:263662)
Association type: UNKNOWN
Gene: HECTD4
Disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Association type: MENDELIAN
Gene: PDE2A
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES (OMIM:619150)
Association type: MENDELIAN
Gene: PDE2A
Disease: Infantile convulsions and choreoathetosis; ICCA syndrome; Paroxysmal kinesigenic dyskinesia and infantile convulsions (ORPHA:31709)
Association type: UNKNOWN
Gene: AMELX
Disease: AMELOGENESIS IMPERFECTA, TYPE IE (OMIM:301200)
Association type: MENDELIAN
Gene: AMELX
Disease: Hypomaturation amelogenesis imperfecta; Amelogenesis imperfecta type 2 (ORPHA:100033)
Association type: UNKNOWN
Gene: ADH5
Disease: AMED SYNDROME, DIGENIC (OMIM:619151)
Association type: MENDELIAN
Gene: STAR
Disease: LIPOID CONGENITAL ADRENAL HYPERPLASIA (OMIM:201710)
Association type: MENDELIAN
Gene: STAR
Disease: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency (ORPHA:325529)
Association type: UNKNOWN
Gene: STAR
Disease: Classic congenital lipoid adrenal hyperplasia due to STAR deficency; Classic CLAH (ORPHA:325524)
Association type: UNKNOWN
Gene: STAR
Disease: Familial glucocorticoid deficiency (ORPHA:361)
Association type: UNKNOWN
Gene: NBEA
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY (OMIM:619157)
Association type: MENDELIAN
Gene: NBEA
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: NOS1AP
Disease: NEPHROTIC SYNDROME, TYPE 22 (OMIM:619155)
Association type: MENDELIAN
Gene: NOS1AP
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: CYP27A1
Disease: CEREBROTENDINOUS XANTHOMATOSIS (OMIM:213700)
Association type: MENDELIAN
Gene: CYP27A1
Disease: Cerebrotendinous xanthomatosis; CTX; Sterol 27-hydroxylase deficiency (ORPHA:909)
Association type: UNKNOWN
Gene: CACNA2D1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110 (OMIM:620149)
Association type: MENDELIAN
Gene: CACNA2D1
Disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Association type: UNKNOWN
Gene: CACNA2D1
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: CACNA2D1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: GNAQ
Disease: CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
Association type: MENDELIAN
Gene: GNAQ
Disease: STURGE-WEBER SYNDROME (OMIM:185300)
Association type: MENDELIAN
Gene: GNAQ
Disease: Sturge-Weber syndrome; Encephalofacial angiomatosis; Encephalotrigeminal angiomatosis; SWS; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe angiomatosis; Sturge-Weber-Krabbe syndrome (ORPHA:3205)
Association type: UNKNOWN
Gene: GNAQ
Disease: Phakomatosis cesioflammea; Phakomatosis pigmentovascularis type 2 (ORPHA:79483)
Association type: UNKNOWN
Gene: GNAQ
Disease: Uveal melanoma; Choroid melanoma; Choroidal and ciliary body melanomas; Melanoma of choroid; Melanoma of uvea (ORPHA:39044)
Association type: UNKNOWN
Gene: GNAQ
Disease: Familial multiple nevi flammei; Familial multiple port-wine stains (ORPHA:624)
Association type: UNKNOWN
Gene: GNAQ
Disease: Anastomosing haemangioma (ORPHA:675359)
Association type: UNKNOWN
Gene: FZR1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109 (OMIM:620145)
Association type: MENDELIAN
Gene: FZR1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ARPC4
Disease: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES (OMIM:620141)
Association type: MENDELIAN
Gene: ARPC4
Disease: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome; ARPC4-related syndrome (ORPHA:662762)
Association type: UNKNOWN
Gene: LOXL1
Disease: EXFOLIATION SYNDROME (OMIM:177650)
Association type: POLYGENIC
Gene: FCHO1
Disease: IMMUNODEFICIENCY 76 (OMIM:619164)
Association type: MENDELIAN
Gene: FCHO1
Disease: Combined immunodeficiency due to FCHO1 deficiency (ORPHA:647804)
Association type: UNKNOWN
Gene: DCT
Disease: OCULOCUTANEOUS ALBINISM, TYPE VIII (OMIM:619165)
Association type: MENDELIAN
Gene: DCT
Disease: Oculocutaneous albinism type 8; OCA8 (ORPHA:597733)
Association type: UNKNOWN
Gene: SDHAF1
Disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 (OMIM:619166)
Association type: MENDELIAN
Gene: SDHAF1
Disease: Isolated succinate-CoQ reductase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate dehydrogenase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Association type: UNKNOWN
Gene: CASP8
Disease: CASPASE 8 DEFICIENCY (OMIM:607271)
Association type: MENDELIAN
Gene: CASP8
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: CASP8
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: CASP8
Disease: LUNG CANCER (OMIM:211980)
Association type: POLYGENIC
Gene: CASP8
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: CASP8
Disease: Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency; ALPS-recurrent viral infections due to CASP8 deficiency; Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency; CEDS; Caspase 8 deficiency syndrome (ORPHA:275517)
Association type: UNKNOWN
Gene: SETD2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Association type: MENDELIAN
Gene: SETD2
Disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Association type: MENDELIAN
Gene: SETD2
Disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Association type: MENDELIAN
Gene: SETD2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SETD2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SETD2
Disease: Luscan-Lumish syndrome; SETD2-related overgrowth syndrome (ORPHA:597738)
Association type: UNKNOWN
Gene: SETD2
Disease: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome (ORPHA:597743)
Association type: UNKNOWN
Gene: MET
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO (OMIM:607278)
Association type: POLYGENIC
Gene: MET
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 11 (OMIM:620019)
Association type: MENDELIAN
Gene: MET
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 97 (OMIM:616705)
Association type: MENDELIAN
Gene: MET
Disease: RENAL CELL CARCINOMA, PAPILLARY, 1 (OMIM:605074)
Association type: MENDELIAN
Gene: MET
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MET
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: MET
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MET
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: MET
Disease: Hereditary papillary renal cell carcinoma; HPRC (ORPHA:47044)
Association type: UNKNOWN
Gene: MET
Disease: Pediatric hepatocellular carcinoma; Childhood-onset HCC; Childhood-onset hepatocellular carcinoma; Pediatric HCC (ORPHA:33402)
Association type: UNKNOWN
Gene: MET
Disease: Papillary renal cell carcinoma; Papillary renal cell adenocarcinoma (ORPHA:319298)
Association type: UNKNOWN
Gene: MET
Disease: Osteofibrous dysplasia; OFD (ORPHA:488265)
Association type: UNKNOWN
Gene: NPTX1
Disease: SPINOCEREBELLAR ATAXIA 50 (OMIM:620158)
Association type: MENDELIAN
Gene: PTGDR
Disease: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 (OMIM:607277)
Association type: POLYGENIC
Gene: HPD
Disease: HAWKINSINURIA (OMIM:140350)
Association type: MENDELIAN
Gene: HPD
Disease: TYROSINEMIA, TYPE III (OMIM:276710)
Association type: MENDELIAN
Gene: HPD
Disease: Tyrosinemia type 3; Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency; Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency; Tyrosinemia due to HPD deficiency; Tyrosinemia type III (ORPHA:69723)
Association type: UNKNOWN
Gene: HPD
Disease: Hawkinsinuria; 4-HPPD deficiency; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency (ORPHA:2118)
Association type: UNKNOWN
Gene: KIF26A
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11 (OMIM:620156)
Association type: MENDELIAN
Gene: CENATAC
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4 (OMIM:620153)
Association type: MENDELIAN
Gene: ZFP36L2
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13 (OMIM:620154)
Association type: MENDELIAN
Gene: ZFP36L2
Disease: Female infertility due to an implantation defect of genetic origin (ORPHA:400025)
Association type: UNKNOWN
Gene: ZFP36L2
Disease: Epithelioid hemangioma; ALHE; Angiolymphoid hyperplasia with eosinophilia; EH (ORPHA:675396)
Association type: UNKNOWN
Gene: ADRB1
Disease: RESTING HEART RATE, VARIATION IN (OMIM:607276)
Association type: MENDELIAN
Gene: ADRB1
Disease: SHORT SLEEP, FAMILIAL NATURAL, 2 (OMIM:618591)
Association type: MENDELIAN
Gene: RRAGD
Disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Association type: MENDELIAN
Gene: RRAGD
Disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Association type: UNKNOWN
Gene: TNNC2
Disease: CONGENITAL MYOPATHY 15 (OMIM:620161)
Association type: MENDELIAN
Gene: BLOC1S5
Disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Association type: MENDELIAN
Gene: BLOC1S5
Disease: Hermansky-Pudlak syndrome due to BLOC-1 deficiency (ORPHA:231531)
Association type: UNKNOWN
Gene: CLCN6
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES (OMIM:619173)
Association type: MENDELIAN
Gene: CLCN6
Disease: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome (ORPHA:610573)
Association type: UNKNOWN
Gene: CLRN2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 117 (OMIM:619174)
Association type: MENDELIAN
Gene: NDUFC2
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 (OMIM:619170)
Association type: MENDELIAN
Gene: LMNB1
Disease: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619179)
Association type: MENDELIAN
Gene: LMNB1
Disease: Adult-onset autosomal dominant leukodystrophy; ADLD; Adult-onset autosomal dominant demyelinating leukodystrophy (ORPHA:99027)
Association type: UNKNOWN
Gene: LMNB1
Disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Association type: UNKNOWN
Gene: PSMB10
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 (OMIM:619175)
Association type: MENDELIAN
Gene: PSMB10
Disease:  (OMIM:620807)
Association type: MENDELIAN
Gene: PSMB10
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: REC114
Disease: OOCYTE MATURATION DEFECT 10 (OMIM:619176)
Association type: MENDELIAN
Gene: CFAP91
Disease: SPERMATOGENIC FAILURE 51 (OMIM:619177)
Association type: MENDELIAN
Gene: DPH1
Disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR (OMIM:616901)
Association type: MENDELIAN
Gene: DPH1
Disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Association type: UNKNOWN
Gene: TBCK
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Association type: MENDELIAN
Gene: TBCK
Disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Association type: UNKNOWN
Gene: GOSR2
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES (OMIM:620166)
Association type: MENDELIAN
Gene: GOSR2
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6 (OMIM:614018)
Association type: MENDELIAN
Gene: GOSR2
Disease: Progressive myoclonic epilepsy type 6; EPM6; GOSR2-related progressive myoclonus ataxia; North Sea progressive myoclonus epilepsy; PME type 6; Progressive myoclonus epilepsy type 6 (ORPHA:280620)
Association type: UNKNOWN
Gene: LRP12
Disease: OCULOPHARYNGODISTAL MYOPATHY 1 (OMIM:164310)
Association type: MENDELIAN
Gene: LRP12
Disease: AMYOTROPHIC LATERAL SCLEROSIS 28 (OMIM:620452)
Association type: MENDELIAN
Gene: LRP12
Disease: Oculopharyngodistal myopathy; OPDM; Oculopharyngeal distal myopathy (ORPHA:98897)
Association type: UNKNOWN
Gene: CRLS1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)
Association type: MENDELIAN
Gene: NUDT15
Disease: THIOPURINES, POOR METABOLISM OF, 2 (OMIM:616903)
Association type: POLYGENIC
Gene: CAPN1
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Association type: MENDELIAN
Gene: CAPN1
Disease: Autosomal recessive spastic paraplegia type 76; SPG76 (ORPHA:488594)
Association type: UNKNOWN
Gene: AGPAT2
Disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Association type: MENDELIAN
Gene: AGPAT2
Disease:  (ORPHA:696189)
Association type: UNKNOWN
Gene: PSMG2
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4 (OMIM:619183)
Association type: MENDELIAN
Gene: PKLR
Disease: PYRUVATE KINASE DEFICIENCY OF RED CELLS (OMIM:266200)
Association type: MENDELIAN
Gene: PKLR
Disease: ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES (OMIM:102900)
Association type: MENDELIAN
Gene: PKLR
Disease: Hemolytic anemia due to red cell pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes (ORPHA:766)
Association type: UNKNOWN
Gene: SCUBE3
Disease: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2 (OMIM:619184)
Association type: MENDELIAN
Gene: SCUBE3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SCUBE3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IQCN
Disease: SPERMATOGENIC FAILURE 78 (OMIM:620170)
Association type: MENDELIAN
Gene: TOGARAM1
Disease: JOUBERT SYNDROME 37 (OMIM:619185)
Association type: MENDELIAN
Gene: TOGARAM1
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: SPG7
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)
Association type: MENDELIAN
Gene: SPG7
Disease: Spastic paraplegia type 7; SPG7 (ORPHA:99013)
Association type: UNKNOWN
Gene: SPG7
Disease: Primary lateral sclerosis; Adult-onset PLS; Adult-onset primary lateral sclerosis; PLS (ORPHA:35689)
Association type: UNKNOWN
Gene: ZNF292
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64 (OMIM:619188)
Association type: MENDELIAN
Gene: UBR7
Disease: LI-CAMPEAU SYNDROME (OMIM:619189)
Association type: MENDELIAN
Gene: UBR7
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TDP1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1 (OMIM:607250)
Association type: MENDELIAN
Gene: TDP1
Disease: Spinocerebellar ataxia with axonal neuropathy type 1; SCAN1 (ORPHA:94124)
Association type: UNKNOWN
Gene: SLFN14
Disease: BLEEDING DISORDER, PLATELET-TYPE, 20 (OMIM:616913)
Association type: MENDELIAN
Gene: SLFN14
Disease: Autosomal dominant thrombocytopenia with platelet secretion defect (ORPHA:466806)
Association type: UNKNOWN
Gene: ATP6V0A2
Disease: WRINKLY SKIN SYNDROME (OMIM:278250)
Association type: MENDELIAN
Gene: ATP6V0A2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ATP6V0A2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ATP6V0A2
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA (OMIM:219200)
Association type: MENDELIAN
Gene: ATP6V0A2
Disease: Wrinkly skin syndrome; WSS; Wrinkled skin syndrome (ORPHA:2834)
Association type: UNKNOWN
Gene: ATP6V0A2
Disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Association type: UNKNOWN
Gene: HELLS
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Association type: MENDELIAN
Gene: HELLS
Disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Association type: UNKNOWN
Gene: CDCA7
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 (OMIM:616910)
Association type: MENDELIAN
Gene: CDCA7
Disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Association type: UNKNOWN
Gene: PIGG
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
Association type: MENDELIAN
Gene: PIGG
Disease: BLOOD GROUP, EMM SYSTEM (OMIM:619812)
Association type: MENDELIAN
Gene: PIGG
Disease: Wolf-Hirschhorn syndrome; 4p- syndrome; Distal deletion 4p; Distal monosomy 4p; Telomeric deletion 4p (ORPHA:280)
Association type: UNKNOWN
Gene: PIGG
Disease: Early-onset epilepsy-intellectual disability-brain anomalies syndrome; Congenital disorder of glycosylation due to PIGG deficiency; PIGG-CDG (ORPHA:488635)
Association type: UNKNOWN
Gene: NSD2
Disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Association type: MENDELIAN
Gene: NSD2
Disease: RAUCH-STEINDL SYNDROME (OMIM:619695)
Association type: MENDELIAN
Gene: NSD2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NSD2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NSD2
Disease: Wolf-Hirschhorn syndrome; 4p- syndrome; Distal deletion 4p; Distal monosomy 4p; Telomeric deletion 4p (ORPHA:280)
Association type: UNKNOWN
Gene: CPLX1
Disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Association type: MENDELIAN
Gene: CPLX1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63 (OMIM:617976)
Association type: MENDELIAN
Gene: CPLX1
Disease: Wolf-Hirschhorn syndrome; 4p- syndrome; Distal deletion 4p; Distal monosomy 4p; Telomeric deletion 4p (ORPHA:280)
Association type: UNKNOWN
Gene: CPLX1
Disease: Familial infantile myoclonic epilepsy; FIME; Familial infantile myoclonus epilepsy (ORPHA:352582)
Association type: UNKNOWN
Gene: CTBP1
Disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Association type: MENDELIAN
Gene: CTBP1
Disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Association type: MENDELIAN
Gene: CTBP1
Disease: Wolf-Hirschhorn syndrome; 4p- syndrome; Distal deletion 4p; Distal monosomy 4p; Telomeric deletion 4p (ORPHA:280)
Association type: UNKNOWN
Gene: FGFRL1
Disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Association type: MENDELIAN
Gene: LETM1
Disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Association type: MENDELIAN
Gene: LETM1
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION (OMIM:620089)
Association type: MENDELIAN
Gene: LETM1
Disease: Wolf-Hirschhorn syndrome; 4p- syndrome; Distal deletion 4p; Distal monosomy 4p; Telomeric deletion 4p (ORPHA:280)
Association type: UNKNOWN
Gene: C3orf52
Disease: HYPOTRICHOSIS 15 (OMIM:620177)
Association type: MENDELIAN
Gene: TSPEAR
Disease: TOOTH AGENESIS, SELECTIVE, 10 (OMIM:620173)
Association type: MENDELIAN
Gene: TSPEAR
Disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS (OMIM:618180)
Association type: MENDELIAN
Gene: TSPEAR
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
Association type: MENDELIAN
Gene: TSPEAR
Disease: Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome; ARED14; Autosomal recesive ectodermal dysplasia 14 (ORPHA:685067)
Association type: UNKNOWN
Gene: FGF14
Disease: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET (OMIM:620174)
Association type: MENDELIAN
Gene: FGF14
Disease: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT (OMIM:193003)
Association type: MENDELIAN
Gene: FGF14
Disease: Spinocerebellar ataxia type 27A; SCA27A (ORPHA:98764)
Association type: UNKNOWN
Gene: FGF14
Disease: Spinocerebellar ataxia type 27B (ORPHA:675216)
Association type: UNKNOWN
Gene: BUB1
Disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Association type: MENDELIAN
Gene: BUB1
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: BUB1
Disease: Mosaic variegated aneuploidy syndrome; Warburton-Anyane-Yeboa syndrome (ORPHA:1052)
Association type: UNKNOWN
Gene: HS2ST1
Disease: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS (OMIM:619194)
Association type: MENDELIAN
Gene: HS2ST1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HS2ST1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HS2ST1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: KARS1
Disease: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY (OMIM:619196)
Association type: MENDELIAN
Gene: KARS1
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS (OMIM:619147)
Association type: MENDELIAN
Gene: KARS1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
Association type: MENDELIAN
Gene: KARS1
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B (OMIM:613641)
Association type: MENDELIAN
Gene: KARS1
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: KARS1
Disease: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome; Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome (ORPHA:3240)
Association type: UNKNOWN
Gene: KARS1
Disease: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B; RI-CMT type B (ORPHA:254334)
Association type: UNKNOWN
Gene: KARS1
Disease: Adult-onset progressive leukoencephalopathy-early-onset deafness; Adult-onset progressive leukoencephalopathy-early-onset hearing loss (ORPHA:652532)
Association type: UNKNOWN
Gene: SLC7A6OS
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 12 (OMIM:619191)
Association type: MENDELIAN
Gene: HLA-A
Disease: SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO (OMIM:608579)
Association type: POLYGENIC
Gene: HLA-A
Disease: Birdshot chorioretinopathy; Birdshot chorioretinitis; Birdshot retinochoroiditis; Birdshot retinochoroidopathy; Vitiliginous choroiditis (ORPHA:179)
Association type: UNKNOWN
Gene: HLA-B
Disease: SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO (OMIM:608579)
Association type: POLYGENIC
Gene: HLA-B
Disease: SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 (OMIM:106300)
Association type: POLYGENIC
Gene: HLA-B
Disease: Giant cell arteritis; Horton disease; Temporal arteritis (ORPHA:397)
Association type: UNKNOWN