TaoMedAI/RareMedData huggingface dataset:
Gene: ABCB11
Disease: Progressive familial intrahepatic cholestasis type 2; BSEP deficiency; PFIC2 (ORPHA:79304)
Association type: UNKNOWN
Gene: PALB2
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
Association type: MENDELIAN
Gene: PALB2
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 (OMIM:613348)
Association type: POLYGENIC
Gene: PALB2
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 5 (OMIM:620442)
Association type: POLYGENIC
Gene: PALB2
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: PALB2
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: PALB2
Disease: Chordoma; Notochordal sarcoma (ORPHA:178)
Association type: UNKNOWN
Gene: PALB2
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: PALB2
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: ATP2A1
Disease: BRODY MYOPATHY (OMIM:601003)
Association type: MENDELIAN
Gene: ATP2A1
Disease: Brody myopathy (ORPHA:53347)
Association type: UNKNOWN
Gene: IDS
Disease: MUCOPOLYSACCHARIDOSIS, TYPE II (OMIM:309900)
Association type: MENDELIAN
Gene: IDS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IDS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IDS
Disease: Mucopolysaccharidosis type 2, attenuated form; Hunter syndrome type B; Iduronate 2-sulfatase deficiency type B; MPS2B; MPSIIB; Mucopolysaccharidosis type 2B; Mucopolysaccharidosis type II, attenuated form; Mucopolysaccharidosis type IIB (ORPHA:217093)
Association type: UNKNOWN
Gene: IDS
Disease: Mucopolysaccharidosis type 2, severe form; Hunter syndrome type A; Iduronate 2-sulfatase deficiency type A; MPS2A; MPSIIA; Mucopolysaccharidosis type 2A; Mucopolysaccharidosis type II, severe form; Mucopolysaccharidosis type IIA (ORPHA:217085)
Association type: UNKNOWN
Gene: NIPBL
Disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Association type: MENDELIAN
Gene: NIPBL
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NIPBL
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NIPBL
Disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Association type: UNKNOWN
Gene: NIPBL
Disease: 5p13 microduplication syndrome; Dup(5)(p13); Trisomy 5p13 (ORPHA:329802)
Association type: UNKNOWN
Gene: DZIP1
Disease: MITRAL VALVE PROLAPSE 3 (OMIM:610840)
Association type: MENDELIAN
Gene: DZIP1
Disease: SPERMATOGENIC FAILURE 47 (OMIM:619102)
Association type: MENDELIAN
Gene: DZIP1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GGCX
Disease: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY (OMIM:610842)
Association type: MENDELIAN
Gene: GGCX
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 (OMIM:277450)
Association type: MENDELIAN
Gene: GGCX
Disease: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency; PXE-like syndrome; Pseudoxanthoma elasticum-like syndrome (ORPHA:91135)
Association type: UNKNOWN
Gene: GGCX
Disease: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa; PXE-like syndrome with retinitis pigmentosa (ORPHA:436274)
Association type: UNKNOWN
Gene: GGCX
Disease: Hereditary combined deficiency of vitamin K-dependent clotting factors; Hereditary combined deficiency of factors II, VII, IX and X (ORPHA:98434)
Association type: UNKNOWN
Gene: GUCY2D
Disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Association type: MENDELIAN
Gene: GUCY2D
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GUCY2D
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1 (OMIM:215500)
Association type: MENDELIAN
Gene: GUCY2D
Disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Association type: MENDELIAN
Gene: GUCY2D
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I (OMIM:618555)
Association type: MENDELIAN
Gene: GUCY2D
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: GUCY2D
Disease: Central areolar choroidal dystrophy; Areolar atrophy of the macula; CACD; Central areolar choroidal sclerosis (ORPHA:75377)
Association type: UNKNOWN
Gene: GUCY2D
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: NME8
Disease: CILIARY DYSKINESIA, PRIMARY, 6 (OMIM:610852)
Association type: MENDELIAN
Gene: NME8
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: MT-ND1
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-ND1
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-ND1
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-ND1
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: MT-ND1
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-ND1
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-ND2
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-ND2
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-ND2
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: MT-ND2
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-ND4
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-ND4
Disease: Rare mitochondrial non-syndromic sensorineural deafness; Isolated mitochondrial neurosensory deafness; Isolated mitochondrial neurosensory hearing loss; Isolated mitochondrial sensorineural deafness; Isolated mitochondrial sensorineural hearing loss; Mitochondrial non-syndromic neurosensory deafness; Mitochondrial non-syndromic neurosensory hearing loss; Mitochondrial non-syndromic sensorineural hearing loss (ORPHA:90641)
Association type: UNKNOWN
Gene: MT-ND4
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-ND4
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-ND4
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-ND4
Disease: Leber plus disease; LHON plus disease (ORPHA:99718)
Association type: UNKNOWN
Gene: MT-CO3
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-CO3
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-CO3
Disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Association type: UNKNOWN
Gene: MT-CO3
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-CO3
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: MT-CO3
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-CYB
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-CYB
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-CYB
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: MT-CYB
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-CYB
Disease: Histiocytoid cardiomyopathy; Foamy myocardial transformation of infancy; Infantile cardiomyopathy with histiocytoid change; Infantile xanthomatous cardiomyopathy; Oncocytic cardiomyopathy (ORPHA:137675)
Association type: UNKNOWN
Gene: MT-ND5
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-ND5
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-ND5
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-ND5
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: MT-ND5
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-ND5
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-ND6
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-ND6
Disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Association type: MENDELIAN
Gene: MT-ND6
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: MT-ND6
Disease: MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Association type: UNKNOWN
Gene: MT-ND6
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-ND6
Disease: Leber plus disease; LHON plus disease (ORPHA:99718)
Association type: UNKNOWN
Gene: MT-ND4L
Disease: LEBER OPTIC ATROPHY (OMIM:535000)
Association type: MENDELIAN
Gene: MT-ND4L
Disease: Leber hereditary optic neuropathy; LHON; Leber optic atrophy (ORPHA:104)
Association type: UNKNOWN
Gene: ERMAP
Disease: BLOOD GROUP--SCIANNA SYSTEM (OMIM:111750)
Association type: MENDELIAN
Gene: ERMAP
Disease: RADIN BLOOD GROUP ANTIGEN (OMIM:111620)
Association type: MENDELIAN
Gene: MCM6
Disease: LACTOSE INTOLERANCE, ADULT TYPE (OMIM:223100)
Association type: MENDELIAN
Gene: LHX4
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 (OMIM:262700)
Association type: MENDELIAN
Gene: LHX4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LHX4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LHX4
Disease: Pituitary stalk interruption syndrome; Ectopic neurohypophysis; PSIS (ORPHA:95496)
Association type: UNKNOWN
Gene: LHX4
Disease: Combined pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism; Multiple pituitary hormone deficiencies, genetic forms (ORPHA:95494)
Association type: UNKNOWN
Gene: LHX4
Disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Association type: UNKNOWN
Gene: LHX4
Disease: Short stature-pituitary and cerebellar defects-small sella turcica syndrome (ORPHA:85442)
Association type: UNKNOWN
Gene: TG
Disease: THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
Association type: MENDELIAN
Gene: TG
Disease: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:608175)
Association type: POLYGENIC
Gene: TG
Disease: Familial thyroid dyshormonogenesis; Thyroid dyshormonogenesis (ORPHA:95716)
Association type: UNKNOWN
Gene: SNORD116-1
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: HERC2
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: HERC2
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
Association type: MENDELIAN
Gene: HERC2
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 (OMIM:227220)
Association type: MENDELIAN
Gene: HERC2
Disease: Developmental delay with autism spectrum disorder and gait instability; Developmental delay with ASD and gait instability (ORPHA:329195)
Association type: UNKNOWN
Gene: NPAP1
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: SNORD115-1
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: MAGEL2
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: MAGEL2
Disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Association type: MENDELIAN
Gene: MAGEL2
Disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Association type: UNKNOWN
Gene: MAGEL2
Disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Association type: UNKNOWN
Gene: MAGEL2
Disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Association type: UNKNOWN
Gene: MAGEL2
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: MAGEL2
Disease: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15; UPD(15)mat (ORPHA:98754)
Association type: UNKNOWN
Gene: MAGEL2
Disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Association type: UNKNOWN
Gene: MKRN3
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: MKRN3
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2 (OMIM:615346)
Association type: MENDELIAN
Gene: MKRN3
Disease: Genetic central precocious puberty in male; Genetic CPP in boy; Genetic CPP in male; Genetic central precocious puberty in boy (ORPHA:650097)
Association type: UNKNOWN
Gene: MKRN3
Disease: Genetic central precocious puberty in female; Genetic CPP in female; Genetic CPP in girl; Genetic central precocious puberty in girl (ORPHA:650077)
Association type: UNKNOWN
Gene: PWAR1
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: IPW
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: PWRN1
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: GYPB
Disease: BLOOD GROUP, Ss (OMIM:111740)
Association type: MENDELIAN
Gene: GYPB
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: KIRREL1
Disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Association type: MENDELIAN
Gene: C14orf39
Disease: SPERMATOGENIC FAILURE 52 (OMIM:619202)
Association type: MENDELIAN
Gene: C14orf39
Disease: PREMATURE OVARIAN FAILURE 18 (OMIM:619203)
Association type: MENDELIAN
Gene: PERP
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 (OMIM:619209)
Association type: MENDELIAN
Gene: PERP
Disease: OLMSTED SYNDROME 2 (OMIM:619208)
Association type: MENDELIAN
Gene: PERP
Disease: Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Olmsted syndrome; Palmoplantar and periorificial keratoderma (ORPHA:659)
Association type: UNKNOWN
Gene: ROBO2
Disease: VESICOURETERAL REFLUX 2 (OMIM:610878)
Association type: MENDELIAN
Gene: ROBO2
Disease: Familial vesicoureteral reflux; Familial VUR (ORPHA:289365)
Association type: UNKNOWN
Gene: MYH9
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17 (OMIM:603622)
Association type: MENDELIAN
Gene: MYH9
Disease: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS (OMIM:155100)
Association type: MENDELIAN
Gene: MYH9
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: MYH9
Disease: MYH9-related disease; MYH9-RD; MYH9-related disorder; MYH9-related syndrome; MYH9-related syndromic thrombocytopenia (ORPHA:182050)
Association type: UNKNOWN
Gene: MYH9
Disease: Nodular fasciitis; Pseudosarcomatous fasciitis; Pseudosarcomatous fibromatosis (ORPHA:477742)
Association type: UNKNOWN
Gene: TECTA
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 21 (OMIM:603629)
Association type: MENDELIAN
Gene: TECTA
Disease: DEAFNESS, AUTOSOMAL DOMINANT 12 (OMIM:601543)
Association type: MENDELIAN
Gene: TECTA
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: TECTA
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: ACKR3
Disease: OCULOMOTOR-ABDUCENS SYNKINESIS (OMIM:619215)
Association type: MENDELIAN
Gene: VWA1
Disease: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES (OMIM:619216)
Association type: MENDELIAN
Gene: VWA1
Disease: Young adult-onset distal hereditary motor neuropathy; Autosomal recessive distal spinal muscular atrophy type 5; Young adult-onset dHMN; dSMA5 (ORPHA:314485)
Association type: UNKNOWN
Gene: RAI1
Disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Association type: MENDELIAN
Gene: RAI1
Disease: SMITH-MAGENIS SYNDROME (OMIM:182290)
Association type: MENDELIAN
Gene: RAI1
Disease: PMP22-RAI1 contiguous gene duplication syndrome; 17p11.2p12 microduplication syndrome; Dup(17)(p11.2p12); Trisomy 17p11.2-p12; Trisomy 17p11.2p12; Yuan-Harel-Lupski syndrome (ORPHA:477817)
Association type: UNKNOWN
Gene: RAI1
Disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Association type: UNKNOWN
Gene: RAI1
Disease: 17p11.2 microduplication syndrome; Potocki-Lupski syndrome; Trisomy 17p11.2 (ORPHA:1713)
Association type: UNKNOWN
Gene: GET3
Disease: CARDIOMYOPATHY, DILATED, 2H (OMIM:620203)
Association type: MENDELIAN
Gene: GET3
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: EN1
Disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Association type: MENDELIAN
Gene: CAMLG
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Association type: MENDELIAN
Gene: GET4
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy (OMIM:620200)
Association type: MENDELIAN
Gene: LMBR1
Disease: LAURIN-SANDROW SYNDROME (OMIM:135750)
Association type: MENDELIAN
Gene: LMBR1
Disease: TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY (OMIM:190605)
Association type: MENDELIAN
Gene: LMBR1
Disease: ACHEIROPODY (OMIM:200500)
Association type: MENDELIAN
Gene: LMBR1
Disease: SYNDACTYLY, TYPE IV (OMIM:186200)
Association type: MENDELIAN
Gene: LMBR1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LMBR1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LMBR1
Disease: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Absent tibia-polydactyly syndrome; Werner mesomelic spectrum (ORPHA:988)
Association type: UNKNOWN
Gene: LMBR1
Disease: Isolated acheiropodia; Isolated acheiropody (ORPHA:931)
Association type: UNKNOWN
Gene: LMBR1
Disease: Laurin-Sandrow syndrome; Mirror hands and feets-nasal defects syndrome; Sandrow syndrome (ORPHA:2378)
Association type: UNKNOWN
Gene: LMBR1
Disease: Polydactyly of a triphalangeal thumb; PPD2; Preaxial polydactyly type 2 (ORPHA:93336)
Association type: UNKNOWN
Gene: LMBR1
Disease: Isolated radial hemimelia; Isolated congenital longitudinal deficiency of the radius; Isolated radial club hand; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Association type: UNKNOWN
Gene: LMBR1
Disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Association type: UNKNOWN
Gene: MPEG1
Disease: IMMUNODEFICIENCY 77 (OMIM:619223)
Association type: MENDELIAN
Gene: DSG3
Disease: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA (OMIM:619226)
Association type: MENDELIAN
Gene: TPP2
Disease: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY (OMIM:619220)
Association type: MENDELIAN
Gene: TPP2
Disease: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency; Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II; Evans syndrome associated with primary immunodeficiency; TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; TRIANGLE disease (ORPHA:444463)
Association type: UNKNOWN
Gene: SQOR
Disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Association type: MENDELIAN
Gene: MYCN
Disease: FEINGOLD SYNDROME 1 (OMIM:164280)
Association type: MENDELIAN
Gene: MYCN
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MYCN
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MYCN
Disease: MEGALENCEPHALY-POLYDACTYLY SYNDROME (OMIM:620748)
Association type: MENDELIAN
Gene: MYCN
Disease: Neuroblastoma (ORPHA:635)
Association type: UNKNOWN