TaoMedAI/RareMedData huggingface dataset:
Gene: MT-TT
Disease: PARKINSON DISEASE, MITOCHONDRIAL (OMIM:556500)
Association type: POLYGENIC
Gene: MT-TT
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: MENDELIAN
Gene: MT-TT
Disease: MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE (OMIM:551000)
Association type: MENDELIAN
Gene: MT-TT
Disease: Lethal infantile mitochondrial myopathy; LIMD; LIMM; Lethal infantile mitochondrial disease (ORPHA:254857)
Association type: UNKNOWN
Gene: PDE11A
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 (OMIM:610475)
Association type: MENDELIAN
Gene: PDE11A
Disease: Isolated micronodular adrenocortical disease; i-MAD (ORPHA:647782)
Association type: UNKNOWN
Gene: PDE11A
Disease: Isolated primary pigmented nodular adrenocortical disease; Isolated PPNAD; i-PPNAD (ORPHA:647772)
Association type: UNKNOWN
Gene: PDE11A
Disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Association type: UNKNOWN
Gene: KLC4
Disease:  (OMIM:621129)
Association type: MENDELIAN
Gene: DSC2
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (OMIM:610476)
Association type: MENDELIAN
Gene: DSC2
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN
Gene: DSC2
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: DSC2
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: CACNA2D4
Disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Association type: MENDELIAN
Gene: CACNA2D4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CACNA2D4
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: CACNA2D4
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: CFAP54
Disease:  (OMIM:621125)
Association type: MENDELIAN
Gene: CFAP54
Disease:  (OMIM:621124)
Association type: MENDELIAN
Gene: BUD13
Disease:  (OMIM:621123)
Association type: MENDELIAN
Gene: PPFIA3
Disease:  (OMIM:621122)
Association type: MENDELIAN
Gene: CHRNG
Disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Association type: MENDELIAN
Gene: CHRNG
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Association type: MENDELIAN
Gene: CHRNG
Disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Association type: UNKNOWN
Gene: CHRNG
Disease: Lethal multiple pterygium syndrome; Autosomal recessive lethal multiple pterygium syndrome; LMPS (ORPHA:33108)
Association type: UNKNOWN
Gene: ARID1B
Disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Association type: MENDELIAN
Gene: ARID1B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ARID1B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ARID1B
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: ARID1B
Disease: 6q25.2q25.3 microdeletion syndrome; Del(6)(q25); Monosomy 6q25 (ORPHA:251056)
Association type: UNKNOWN
Gene: TK2
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Association type: MENDELIAN
Gene: TK2
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 (OMIM:617069)
Association type: MENDELIAN
Gene: TK2
Disease: Autosomal recessive progressive external ophthalmoplegia; arPEO (ORPHA:254886)
Association type: UNKNOWN
Gene: TK2
Disease: Mitochondrial DNA depletion syndrome, myopathic form; mtDNA depletion syndrome, myopathic form (ORPHA:254875)
Association type: UNKNOWN
Gene: LHCGR
Disease: PRECOCIOUS PUBERTY, MALE-LIMITED (OMIM:176410)
Association type: MENDELIAN
Gene: LHCGR
Disease: LEYDIG CELL HYPOPLASIA, TYPE I (OMIM:238320)
Association type: MENDELIAN
Gene: LHCGR
Disease: Familial peripheral male-limited precocious puberty; FMPP; Familial gonadotropin-independent male-limited sexual precocity; Male-limited precocious puberty; Testotoxicosis (ORPHA:3000)
Association type: UNKNOWN
Gene: LHCGR
Disease: Leydig cell hypoplasia due to partial LH resistance; 46,XY DSD due to partial LH receptor inactivation; 46,XY DSD due to partial LH resistance; 46,XY DSD due to partial luteinizing hormone resistance; 46,XY disorder of sex developement due to partial LH receptor inactivation; 46,XY disorder of sex developement due to partial LH resistance; 46,XY disorder of sex developement due to partial luteinizing hormone resistance; Leydig cell hypoplasia due to partial LH receptor inactivation; Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to partial luteinizing hormone resistance (ORPHA:96266)
Association type: UNKNOWN
Gene: LHCGR
Disease: Leydig cell hypoplasia due to complete LH resistance; 46,XY DSD due to complete LH receptor inactivation; 46,XY DSD due to complete LH resistance; 46,XY DSD due to complete luteinizing hormone receptor inactivation; 46,XY DSD due to complete luteinizing hormone resistance; 46,XY disorder of sex development due to complete LH receptor inactivation; 46,XY disorder of sex development due to complete LH resistance; 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation; 46,XY disorder of sex development due to complete luteinizing hormone resistance; Leydig cell hypoplasia due to complete LH receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone resistance (ORPHA:96265)
Association type: UNKNOWN
Gene: ARHGEF10
Disease: SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT (OMIM:608236)
Association type: MENDELIAN
Gene: ARHGEF10
Disease: Autosomal dominant slowed nerve conduction velocity (ORPHA:140481)
Association type: UNKNOWN
Gene: AP3B1
Disease: HERMANSKY-PUDLAK SYNDROME 2 (OMIM:608233)
Association type: MENDELIAN
Gene: AP3B1
Disease: Hermansky-Pudlak syndrome due to AP3B1 deficiency; HPS2; Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency; Hermansky-Pudlak syndrome type 2; Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency (ORPHA:664500)
Association type: UNKNOWN
Gene: SUPT7L
Disease:  (OMIM:621130)
Association type: MENDELIAN
Gene: MAN2B2
Disease:  (OMIM:621140)
Association type: MENDELIAN
Gene: MAN2B2
Disease:  (ORPHA:695110)
Association type: UNKNOWN
Gene: MRPS16
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 (OMIM:610498)
Association type: MENDELIAN
Gene: MRPS16
Disease: Combined oxidative phosphorylation defect type 2; COXPD2 (ORPHA:254920)
Association type: UNKNOWN
Gene: XKRY
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: VCY
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: USP9Y
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: USP9Y
Disease: Chromosome Y microdeletion syndrome; Male infertility due to chromosome Y microdeletion; Microdeletion of the AZF region on the Y chromosome (ORPHA:1646)
Association type: UNKNOWN
Gene: RBMY1A1
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: RBMY1A1
Disease: Chromosome Y microdeletion syndrome; Male infertility due to chromosome Y microdeletion; Microdeletion of the AZF region on the Y chromosome (ORPHA:1646)
Association type: UNKNOWN
Gene: DDX3Y
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: DDX3Y
Disease: Chromosome Y microdeletion syndrome; Male infertility due to chromosome Y microdeletion; Microdeletion of the AZF region on the Y chromosome (ORPHA:1646)
Association type: UNKNOWN
Gene: HSFY1
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: CDY2A
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: CDY1
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: DAZ1
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: DAZ1
Disease: Chromosome Y microdeletion syndrome; Male infertility due to chromosome Y microdeletion; Microdeletion of the AZF region on the Y chromosome (ORPHA:1646)
Association type: UNKNOWN
Gene: PRY2
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: PRY
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: BPY2
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: DAZ3
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: DAZ3
Disease: Chromosome Y microdeletion syndrome; Male infertility due to chromosome Y microdeletion; Microdeletion of the AZF region on the Y chromosome (ORPHA:1646)
Association type: UNKNOWN
Gene: RPS4Y2
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: KDM5D
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: DAZ2
Disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Association type: MENDELIAN
Gene: DAZ2
Disease: Chromosome Y microdeletion syndrome; Male infertility due to chromosome Y microdeletion; Microdeletion of the AZF region on the Y chromosome (ORPHA:1646)
Association type: UNKNOWN
Gene: LEMD2
Disease: CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY (OMIM:212500)
Association type: MENDELIAN
Gene: LEMD2
Disease: MARBACH-RUSTAD PROGEROID SYNDROME (OMIM:619322)
Association type: MENDELIAN
Gene: LEMD2
Disease: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome; LEMD2-associated nuclear envelopathy with early progeroid appearance; Marbach-Rustad progeroid syndrome (ORPHA:659873)
Association type: UNKNOWN
Gene: LEMD2
Disease: Early-onset posterior subcapsular cataract (ORPHA:441447)
Association type: UNKNOWN
Gene: LEMD2
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: P2RX2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (OMIM:608224)
Association type: MENDELIAN
Gene: P2RX2
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: TBX6
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5 (OMIM:122600)
Association type: MENDELIAN
Gene: TBX6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TBX6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TBX6
Disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Association type: UNKNOWN
Gene: TBX6
Disease: Autosomal dominant spondylocostal dysostosis; Autosomal dominant spondylocostal dysplasia (ORPHA:1797)
Association type: UNKNOWN
Gene: DISP1
Disease:  (OMIM:621143)
Association type: MENDELIAN
Gene: DISP1
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: DISP1
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: DISP1
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: DISP1
Disease: Midline interhemispheric variant of holoprosencephaly; MIH; MIH type HPE; MIHF; MIHV; Middle interhemispheric fusion variant; Middle interhemispheric variant of holoprosencephaly; Syntelencephaly (ORPHA:93926)
Association type: UNKNOWN
Gene: DISP1
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: DISP1
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: EEF1D
Disease:  (OMIM:621150)
Association type: MENDELIAN
Gene: MFRP
Disease: NANOPHTHALMOS 2 (OMIM:609549)
Association type: MENDELIAN
Gene: MFRP
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MFRP
Disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Association type: MENDELIAN
Gene: MFRP
Disease: Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome (ORPHA:251279)
Association type: UNKNOWN
Gene: MFRP
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: CYB5R3
Disease: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE (OMIM:250800)
Association type: MENDELIAN
Gene: CYB5R3
Disease: Hereditary methemoglobinemia; Autosomal recessive methemoglobinemia; Congenital methemoglobinemia (ORPHA:621)
Association type: UNKNOWN
Gene: XDH
Disease: XANTHINURIA, TYPE I (OMIM:278300)
Association type: MENDELIAN
Gene: XDH
Disease: Xanthinuria type I; XDH deficiency; XO deficiency; XOR deficiency; Xanthine dehydrogenase deficiency; Xanthine oxidase deficiency; Xanthine oxidoreductase deficiency (ORPHA:93601)
Association type: UNKNOWN
Gene: CEP55
Disease: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY (OMIM:236500)
Association type: MENDELIAN
Gene: CEP55
Disease: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome; MARCH syndrome (ORPHA:500135)
Association type: UNKNOWN
Gene: KLC2
Disease: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (OMIM:609541)
Association type: MENDELIAN
Gene: KLC2
Disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Association type: UNKNOWN
Gene: SPOUT1
Disease:  (OMIM:621154)
Association type: MENDELIAN
Gene: FAM177A1
Disease:  (OMIM:621152)
Association type: MENDELIAN
Gene: GRWD1
Disease:  (OMIM:621160)
Association type: MENDELIAN
Gene: COLEC11
Disease: 3MC SYNDROME 2 (OMIM:265050)
Association type: MENDELIAN
Gene: COLEC11
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COLEC11
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COLEC11
Disease: 3MC syndrome; Craniofacial-ulnar-renal syndrome; Malpuech-Michels-Mingarelli-Carnevale syndrome (ORPHA:293843)
Association type: UNKNOWN
Gene: HPCA
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Association type: MENDELIAN
Gene: HPCA
Disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Association type: UNKNOWN
Gene: C5
Disease: COMPLEMENT COMPONENT 5 DEFICIENCY (OMIM:609536)
Association type: MENDELIAN
Gene: C5
Disease: ECULIZUMAB, POOR RESPONSE TO (OMIM:615749)
Association type: MENDELIAN
Gene: C5
Disease: Immunodeficiency due to a late component of complement deficiency; Immunodeficiency due to C5 to C9 component complement deficiency; Terminal complement pathway deficiency (ORPHA:169150)
Association type: UNKNOWN
Gene: NR3C2
Disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Association type: MENDELIAN
Gene: NR3C2
Disease: HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY (OMIM:605115)
Association type: MENDELIAN
Gene: NR3C2
Disease: Renal pseudohypoaldosteronism type 1; Autosomal dominant PHA1; Autosomal dominant pseudohypoaldosteronism type 1; Renal PHA1 (ORPHA:171871)
Association type: UNKNOWN
Gene: GABBR2
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Association type: MENDELIAN
Gene: GABBR2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Association type: MENDELIAN
Gene: GABBR2
Disease: TOBACCO ADDICTION, SUSCEPTIBILITY TO (OMIM:188890)
Association type: POLYGENIC
Gene: GABBR2
Disease: Atypical Rett syndrome; Atypical RTT; Rett syndrome variant (ORPHA:3095)
Association type: UNKNOWN
Gene: GABBR2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: EPO
Disease: ERYTHROCYTOSIS, FAMILIAL, 5 (OMIM:617907)
Association type: MENDELIAN
Gene: EPO
Disease: DIAMOND-BLACKFAN ANEMIA-LIKE (OMIM:617911)
Association type: MENDELIAN
Gene: EPO
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (OMIM:612623)
Association type: POLYGENIC
Gene: EPO
Disease: Autosomal dominant secondary polycythemia; Autosomal dominant secondary erythrocytosis (ORPHA:247511)
Association type: UNKNOWN
Gene: KRT81
Disease:  (OMIM:621169)
Association type: MENDELIAN
Gene: KRT81
Disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Association type: UNKNOWN
Gene: CYP2C19
Disease: DRUG METABOLISM, POOR, CYP2C19-RELATED (OMIM:609535)
Association type: MENDELIAN
Gene: IFNL3
Disease: HEPATITIS C VIRUS, SUSCEPTIBILITY TO (OMIM:609532)
Association type: POLYGENIC
Gene: TNFRSF13B
Disease: IMMUNOGLOBULIN A DEFICIENCY 2 (OMIM:609529)
Association type: MENDELIAN
Gene: TNFRSF13B
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Association type: MENDELIAN
Gene: TNFRSF13B
Disease:  (ORPHA:696907)
Association type: UNKNOWN
Gene: SNAP29
Disease: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME (OMIM:609528)
Association type: MENDELIAN
Gene: SNAP29
Disease: CEDNIK syndrome; Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome (ORPHA:66631)
Association type: UNKNOWN
Gene: GEMIN4
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES (OMIM:617913)
Association type: MENDELIAN
Gene: GATA5
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 (OMIM:617912)
Association type: MENDELIAN
Gene: GATA5
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GATA5
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: GATA5
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: GATA5
Disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Association type: UNKNOWN
Gene: CRAT
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Association type: MENDELIAN
Gene: MYO1A
Disease:  (OMIM:621179)
Association type: MENDELIAN
Gene: MYO1A
Disease: DEAFNESS, AUTOSOMAL DOMINANT 48 (OMIM:607841)
Association type: MENDELIAN
Gene: MYO1A
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: REPS1
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Association type: MENDELIAN
Gene: SIX6
Disease: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Association type: MENDELIAN
Gene: SIX6
Disease: MICROPHTHALMIA, SYNDROMIC 3 (OMIM:206900)
Association type: MENDELIAN
Gene: SIX6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SIX6
Disease: Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome (ORPHA:435930)
Association type: UNKNOWN
Gene: SIX6
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: SIX6
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: FRZB
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 1 (OMIM:165720)
Association type: POLYGENIC
Gene: FBXO22
Disease:  (OMIM:621184)
Association type: MENDELIAN
Gene: NAV3
Disease:  (OMIM:621182)
Association type: MENDELIAN
Gene: DCAF17
Disease: WOODHOUSE-SAKATI SYNDROME (OMIM:241080)
Association type: MENDELIAN
Gene: KIF5A
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 (OMIM:617921)
Association type: POLYGENIC
Gene: KIF5A
Disease: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT (OMIM:604187)
Association type: MENDELIAN
Gene: KIF5A
Disease: MYOCLONUS, INTRACTABLE, NEONATAL (OMIM:617235)
Association type: MENDELIAN
Gene: KIF5A
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation; CMT2 due to KIF5A mutation (ORPHA:324611)
Association type: UNKNOWN
Gene: KIF5A
Disease: Autosomal dominant spastic paraplegia type 10; SPG10 (ORPHA:100991)
Association type: UNKNOWN
Gene: GPNMB
Disease: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 (OMIM:617920)
Association type: MENDELIAN
Gene: GPNMB
Disease: Amyloidosis cutis dyschromia; Amyloidosis cutis dyschromica (ORPHA:319635)
Association type: UNKNOWN
Gene: INTU
Disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Association type: MENDELIAN
Gene: INTU
Disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Association type: MENDELIAN
Gene: INTU
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: INTU
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CNPY3
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Association type: MENDELIAN
Gene: CNPY3
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: TUBA3D
Disease: KERATOCONUS 9 (OMIM:617928)
Association type: MENDELIAN
Gene: IFT57
Disease: OROFACIODIGITAL SYNDROME XVIII (OMIM:617927)
Association type: MENDELIAN
Gene: IFT57
Disease: Oral-facial-digital syndrome with short stature and brachymesophalangy; OFD18; Oral-facial-digital syndrome type 18; Orofaciodigital syndrome type 18 (ORPHA:508501)
Association type: UNKNOWN
Gene: ATXN1
Disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Association type: MENDELIAN
Gene: ATXN1
Disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Association type: UNKNOWN
Gene: PPP2R5C
Disease:  (OMIM:621185)
Association type: MENDELIAN
Gene: MRPL49
Disease:  (OMIM:621195)
Association type: MENDELIAN
Gene: SEPTIN4
Disease:  (OMIM:621194)
Association type: MENDELIAN
Gene: SEPTIN4
Disease: Male infertility due to globozoospermia; Male infertility due to round-headed spermatozoa; Round-headed sperm syndrome (ORPHA:171709)
Association type: UNKNOWN
Gene: LSM1
Disease:  (OMIM:621193)
Association type: MENDELIAN
Gene: TGM1
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1 (OMIM:242300)
Association type: MENDELIAN
Gene: TGM1
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: TGM1
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: TGM1
Disease: Self-improving collodion baby; SHCB; SICI; Self-healing collodion baby; Self-improving congenital ichthyosis (ORPHA:281122)
Association type: UNKNOWN
Gene: TGM1
Disease: Acral self-healing collodion baby; Acral SHCB (ORPHA:281127)
Association type: UNKNOWN
Gene: TGM1
Disease: Bathing suit ichthyosis; BSI (ORPHA:100976)
Association type: UNKNOWN
Gene: AMOTL1
Disease:  (OMIM:621192)
Association type: MENDELIAN
Gene: AMOTL1
Disease: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome; AMOTL1-related syndrome (ORPHA:660021)
Association type: UNKNOWN
Gene: LSM7
Disease:  (OMIM:621191)
Association type: MENDELIAN
Gene: TTR
Disease: CARPAL TUNNEL SYNDROME (OMIM:115430)
Association type: MENDELIAN