TaoMedAI/RareMedData huggingface dataset:
Gene: FBXW7
Disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Association type: MENDELIAN
Gene: HGF
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 39 (OMIM:608265)
Association type: MENDELIAN
Gene: HGF
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: KDM6A
Disease: KABUKI SYNDROME 1 (OMIM:147920)
Association type: MENDELIAN
Gene: KDM6A
Disease: KABUKI SYNDROME 2 (OMIM:300867)
Association type: MENDELIAN
Gene: KDM6A
Disease: Kabuki syndrome; Kabuki make-up syndrome; Niikawa-Kuroki syndrome (ORPHA:2322)
Association type: UNKNOWN
Gene: ACKR1
Disease: BLOOD GROUP, DUFFY SYSTEM (OMIM:110700)
Association type: MENDELIAN
Gene: ACKR1
Disease: WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1 (OMIM:611862)
Association type: MENDELIAN
Gene: ACKR1
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: CD274
Disease:  (OMIM:621235)
Association type: MENDELIAN
Gene: IKZF2
Disease:  (OMIM:621234)
Association type: MENDELIAN
Gene: IKZF2
Disease:  (OMIM:621233)
Association type: MENDELIAN
Gene: IKZF2
Disease:  (ORPHA:699599)
Association type: UNKNOWN
Gene: IKZF2
Disease:  (ORPHA:697389)
Association type: UNKNOWN
Gene: TUBA1C
Disease:  (OMIM:621232)
Association type: MENDELIAN
Gene: OTOA
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 22 (OMIM:607039)
Association type: MENDELIAN
Gene: OTOA
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: SOX17
Disease:  (OMIM:621248)
Association type: MENDELIAN
Gene: SOX17
Disease: VESICOURETERAL REFLUX 3 (OMIM:613674)
Association type: MENDELIAN
Gene: SOX17
Disease: Familial vesicoureteral reflux; Familial VUR (ORPHA:289365)
Association type: UNKNOWN
Gene: SOX17
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: PRCD
Disease: RETINITIS PIGMENTOSA 36 (OMIM:610599)
Association type: MENDELIAN
Gene: PRCD
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRCD
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CYP2C9
Disease: COUMARIN RESISTANCE (OMIM:122700)
Association type: MENDELIAN
Gene: VKORC1
Disease: COUMARIN RESISTANCE (OMIM:122700)
Association type: MENDELIAN
Gene: VKORC1
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 (OMIM:607473)
Association type: MENDELIAN
Gene: VKORC1
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: CYP2A6
Disease: COUMARIN RESISTANCE (OMIM:122700)
Association type: MENDELIAN
Gene: CYP2A6
Disease: TOBACCO ADDICTION, SUSCEPTIBILITY TO (OMIM:188890)
Association type: POLYGENIC
Gene: CYP2A6
Disease: LUNG CANCER (OMIM:211980)
Association type: POLYGENIC
Gene: CYP2A6
Disease: Letrozole toxicity (ORPHA:529831)
Association type: UNKNOWN
Gene: SECISBP2
Disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Association type: MENDELIAN
Gene: SECISBP2
Disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Association type: UNKNOWN
Gene: TMEM63B
Disease:  (OMIM:621250)
Association type: MENDELIAN
Gene: SFTPB
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 (OMIM:265120)
Association type: MENDELIAN
Gene: SFTPB
Disease: Pediatric acute respiratory distress syndrome; PARDS; Pediatric ARDS (ORPHA:685082)
Association type: UNKNOWN
Gene: SFTPB
Disease: Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal RDS; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Association type: UNKNOWN
Gene: RPS6KA3
Disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Association type: MENDELIAN
Gene: RPS6KA3
Disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Association type: MENDELIAN
Gene: RPS6KA3
Disease: Coffin-Lowry syndrome; CLS (ORPHA:192)
Association type: UNKNOWN
Gene: RPS6KA3
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: RPS6KA3
Disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Association type: UNKNOWN
Gene: RDH8
Disease:  (OMIM:621259)
Association type: MENDELIAN
Gene: FAAP100
Disease:  (OMIM:621258)
Association type: MENDELIAN
Gene: MBTPS1
Disease:  (OMIM:621252)
Association type: MENDELIAN
Gene: MBTPS1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE (OMIM:618392)
Association type: MENDELIAN
Gene: C10orf71
Disease:  (OMIM:621251)
Association type: MENDELIAN
Gene: NEXN
Disease:  (OMIM:621261)
Association type: MENDELIAN
Gene: NEXN
Disease: CARDIOMYOPATHY, DILATED, 1CC (OMIM:613122)
Association type: MENDELIAN
Gene: NEXN
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 (OMIM:613876)
Association type: MENDELIAN
Gene: NEXN
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: FGF4
Disease:  (OMIM:621260)
Association type: MENDELIAN
Gene: ATG4D
Disease:  (OMIM:621269)
Association type: MENDELIAN
Gene: IDUA
Disease: HURLER SYNDROME (OMIM:607014)
Association type: MENDELIAN
Gene: IDUA
Disease: SCHEIE SYNDROME (OMIM:607016)
Association type: MENDELIAN
Gene: IDUA
Disease: HURLER-SCHEIE SYNDROME (OMIM:607015)
Association type: MENDELIAN
Gene: IDUA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IDUA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IDUA
Disease: Scheie syndrome; MPS1S; MPSIS; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis type IS (ORPHA:93474)
Association type: UNKNOWN
Gene: IDUA
Disease: Hurler syndrome; Hurler disease; MPS1H; MPSIH; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis type IH (ORPHA:93473)
Association type: UNKNOWN
Gene: IDUA
Disease: Hurler-Scheie syndrome; MPS1H/S; MPSIH/S; Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis type IH/S (ORPHA:93476)
Association type: UNKNOWN
Gene: LRP6
Disease:  (OMIM:621268)
Association type: MENDELIAN
Gene: LRP6
Disease: TOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
Association type: MENDELIAN
Gene: LRP6
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (OMIM:610947)
Association type: POLYGENIC
Gene: LRP6
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: ITGA2
Disease:  (OMIM:621267)
Association type: MENDELIAN
Gene: ITGA2
Disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Association type: UNKNOWN
Gene: ITGA2B
Disease:  (OMIM:621266)
Association type: MENDELIAN
Gene: ITGA2B
Disease: GLANZMANN THROMBASTHENIA 1 (OMIM:273800)
Association type: MENDELIAN
Gene: ITGA2B
Disease: BLEEDING DISORDER, PLATELET-TYPE, 16 (OMIM:187800)
Association type: MENDELIAN
Gene: ITGA2B
Disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Association type: UNKNOWN
Gene: ITGA2B
Disease: Glanzmann thrombasthenia (ORPHA:849)
Association type: UNKNOWN
Gene: ITGA2B
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: DOT1L
Disease:  (OMIM:621265)
Association type: MENDELIAN
Gene: FEM1B
Disease:  (OMIM:621263)
Association type: MENDELIAN
Gene: GDAP1
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A (OMIM:608340)
Association type: MENDELIAN
Gene: GDAP1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Association type: MENDELIAN
Gene: GDAP1
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (OMIM:214400)
Association type: MENDELIAN
Gene: GDAP1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE (OMIM:607706)
Association type: MENDELIAN
Gene: GDAP1
Disease: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness; ARCMT2K; Autosomal recessive axonal CMT4C4; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K (ORPHA:101097)
Association type: UNKNOWN
Gene: GDAP1
Disease: Charcot-Marie-Tooth disease type 4A; CMT4A (ORPHA:99948)
Association type: UNKNOWN
Gene: GDAP1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2K; CMT2K (ORPHA:99944)
Association type: UNKNOWN
Gene: GDAP1
Disease: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A; RI-CMT type A (ORPHA:217055)
Association type: UNKNOWN
Gene: GDAP1
Disease: Charcot-Marie-Tooth disease type 2H; AR-CMT2C; Autosomal recessive axonal CMT4C2; Axonal Charcot-Marie-Tooth disease with pyramidal involvement; CMT2H (ORPHA:101102)
Association type: UNKNOWN
Gene: RPL17
Disease:  (OMIM:621262)
Association type: MENDELIAN
Gene: TRIM63
Disease:  (OMIM:621270)
Association type: MENDELIAN
Gene: IMPG1
Disease: MACULAR DYSTROPHY, CONCENTRIC ANNULAR (OMIM:153870)
Association type: MENDELIAN
Gene: IMPG1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IMPG1
Disease: MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
Association type: MENDELIAN
Gene: IMPG1
Disease: Adult-onset foveomacular vitelliform dystrophy; AOFMD; AVMD; Adult-onset foveomacular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization; Adult-onset vitelliform macular dystrophy; Gass disease; Pseudo-Best disease; Pseudo-vitelliform macular dystrophy (ORPHA:99000)
Association type: UNKNOWN
Gene: IMPG1
Disease: Benign concentric annular macular dystrophy (ORPHA:251287)
Association type: UNKNOWN
Gene: IMPG1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: BCKDHA
Disease: MAPLE SYRUP URINE DISEASE (OMIM:248600)
Association type: MENDELIAN
Gene: BCKDHA
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: BCKDHA
Disease: Intermediate maple syrup urine disease; Intermediate BCKD deficiency; Intermediate MSUD; Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency (ORPHA:268162)
Association type: UNKNOWN
Gene: BCKDHA
Disease: Intermittent maple syrup urine disease; Intermittent BCKD deficiency; Intermittent MSUD; Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency (ORPHA:268173)
Association type: UNKNOWN
Gene: TMCO1
Disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Association type: MENDELIAN
Gene: TMCO1
Disease: Cerebrofaciothoracic dysplasia; Pascual-Castroviejo syndrome type 1 (ORPHA:1394)
Association type: UNKNOWN
Gene: NR6A1
Disease:  (OMIM:621277)
Association type: MENDELIAN
Gene: MSH4
Disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Association type: MENDELIAN
Gene: MSH4
Disease: PREMATURE OVARIAN FAILURE 20 (OMIM:619938)
Association type: MENDELIAN
Gene: MSH4
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: TBC1D32
Disease:  (OMIM:621280)
Association type: MENDELIAN
Gene: YARS1
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Association type: MENDELIAN
Gene: YARS1
Disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Association type: MENDELIAN
Gene: YARS1
Disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C; CMTDIC (ORPHA:100045)
Association type: UNKNOWN
Gene: MEF2A
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Association type: POLYGENIC
Gene: MARK2
Disease:  (OMIM:621285)
Association type: MENDELIAN
Gene: ILDR1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (OMIM:609646)
Association type: MENDELIAN
Gene: ILDR1
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: CCDC88C
Disease: HYDROCEPHALUS, CONGENITAL, 1 (OMIM:236600)
Association type: MENDELIAN
Gene: CCDC88C
Disease: SPINOCEREBELLAR ATAXIA 40 (OMIM:616053)
Association type: MENDELIAN
Gene: CCDC88C
Disease: Spinocerebellar ataxia type 40; SCA40 (ORPHA:423275)
Association type: UNKNOWN
Gene: CCDC88C
Disease: Congenital non-communicating hydrocephalus; Congenital obstructive hydrocephalus (ORPHA:269510)
Association type: UNKNOWN
Gene: WAC
Disease: DESANTO-SHINAWI SYNDROME (OMIM:616708)
Association type: MENDELIAN
Gene: WAC
Disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; 10p12p11 microdeletion syndrome; Del(10)(p11.21p12.31); Deletion 10p11.21p12.31; Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion; Monosomy 10p11.21p12.31 (ORPHA:284169)
Association type: UNKNOWN
Gene: WAC
Disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Desanto-Shinawi syndrome due to WAC point mutation (ORPHA:466950)
Association type: UNKNOWN
Gene: HOMER2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 68 (OMIM:616707)
Association type: MENDELIAN
Gene: HOMER2
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: COMT
Disease:  (OMIM:621296)
Association type: MENDELIAN
Gene: COMT
Disease: 22q11.2 deletion syndrome; 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; Velocardiofacial syndrome (ORPHA:567)
Association type: UNKNOWN
Gene: NOTCH1
Disease: AORTIC VALVE DISEASE 1 (OMIM:109730)
Association type: MENDELIAN
Gene: NOTCH1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NOTCH1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NOTCH1
Disease: ADAMS-OLIVER SYNDROME 5 (OMIM:616028)
Association type: MENDELIAN
Gene: NOTCH1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NOTCH1
Disease: Adams-Oliver syndrome; AOS; Aplasia cutis congenita with distal limb anomalies; Aplasia cutis congenita with terminal transverse limb defects; Congenital scalp defects with distal limb anomalies; Congenital scalp defects with distal limb reduction anomalies (ORPHA:974)
Association type: UNKNOWN
Gene: NOTCH1
Disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Association type: UNKNOWN
Gene: ZIC2
Disease: HOLOPROSENCEPHALY 5 (OMIM:609637)
Association type: MENDELIAN
Gene: ZIC2
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: ZIC2
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: ZIC2
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: ZIC2
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: ZIC2
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: ZIC2
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: CHCHD2
Disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
Association type: MENDELIAN
Gene: ITM2B
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 (OMIM:176500)
Association type: MENDELIAN
Gene: ITM2B
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ITM2B
Disease: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES (OMIM:616079)
Association type: MENDELIAN
Gene: ITM2B
Disease: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 (OMIM:117300)
Association type: MENDELIAN
Gene: ITM2B
Disease: ADan amyloidosis; Familial dementia, Danish type (ORPHA:97346)
Association type: UNKNOWN
Gene: ITM2B
Disease: ABri amyloidosis; Familial dementia, British type (ORPHA:97345)
Association type: UNKNOWN
Gene: ITM2B
Disease: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies; Retinal dystrophy with inner nuclear layer and ganglion cell anomalies (ORPHA:397758)
Association type: UNKNOWN
Gene: SCYL1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Association type: MENDELIAN
Gene: SCYL1
Disease: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21; SCAR21 (ORPHA:466794)
Association type: UNKNOWN
Gene: PEX5
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Association type: MENDELIAN
Gene: PEX5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PEX5
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Association type: MENDELIAN
Gene: PEX5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PEX5
Disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Association type: MENDELIAN
Gene: PEX5
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX5
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX5
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: PEX5
Disease: Rhizomelic chondrodysplasia punctata type 5 (ORPHA:468717)
Association type: UNKNOWN
Gene: LPIN2
Disease: MAJEED SYNDROME (OMIM:609628)
Association type: MENDELIAN
Gene: LPIN2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LPIN2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LPIN2
Disease: Majeed syndrome; Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome (ORPHA:77297)
Association type: UNKNOWN
Gene: STAG2
Disease: HOLOPROSENCEPHALY 13, X-LINKED (OMIM:301043)
Association type: MENDELIAN
Gene: STAG2
Disease: MULLEGAMA-KLEIN-MARTINEZ SYNDROME (OMIM:301022)
Association type: MENDELIAN
Gene: STAG2
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: STAG2
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: STAG2
Disease: Xq25 microduplication syndrome; Dup(X)(q25); Xq25 microtriplication (ORPHA:521258)
Association type: UNKNOWN
Gene: SMC1A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:301044)
Association type: MENDELIAN
Gene: SMC1A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMC1A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMC1A
Disease: CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
Association type: MENDELIAN
Gene: SMC1A
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: SMC1A
Disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Association type: UNKNOWN
Gene: SMC1A
Disease: Atypical Rett syndrome; Atypical RTT; Rett syndrome variant (ORPHA:3095)
Association type: UNKNOWN
Gene: MIR204
Disease: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT (OMIM:616722)
Association type: MENDELIAN
Gene: MIR204
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MIR204
Disease: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (ORPHA:488197)
Association type: UNKNOWN
Gene: SLC39A8
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Association type: MENDELIAN
Gene: SLC39A8
Disease: SLC39A8-CDG; CDG syndrome type IIn; CDG-IIn; CDG2N; Carbohydrate deficient glycoprotein syndrome type IIn; Congenital disorder of glycosylation type 2n; Congenital disorder of glycosylation type IIn; SLC39A8 deficiency (ORPHA:468699)
Association type: UNKNOWN
Gene: COL13A1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19 (OMIM:616720)
Association type: MENDELIAN
Gene: COL13A1
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: COL13A1
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: DRC4
Disease: CILIARY DYSKINESIA, PRIMARY, 33 (OMIM:616726)
Association type: MENDELIAN
Gene: DRC4
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: RSPRY1
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE (OMIM:616723)
Association type: MENDELIAN
Gene: RSPRY1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RSPRY1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RSPRY1
Disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
Association type: UNKNOWN
Gene: KDM1A
Disease: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
Association type: MENDELIAN
Gene: KDM1A
Disease:  (OMIM:620990)
Association type: POLYGENIC
Gene: KDM1A
Disease: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome; Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
Association type: UNKNOWN
Gene: KDM1A
Disease: Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMACD; CS due to BMAD; Cushing syndrome due to BMACD; Cushing syndrome due to BMAD; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia (ORPHA:189427)
Association type: UNKNOWN
Gene: OTUD5
Disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Association type: MENDELIAN
Gene: OTUD5
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: FGF13
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90 (OMIM:301058)
Association type: MENDELIAN
Gene: FGF13
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110 (OMIM:301095)
Association type: MENDELIAN