TaoMedAI/RareMedData huggingface dataset:
Gene: COQ8B
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: ASNS
Disease: ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Association type: MENDELIAN
Gene: ASNS
Disease: Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome; Asparagine synthetase deficiency (ORPHA:391376)
Association type: UNKNOWN
Gene: NFKB2
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 10 (OMIM:615577)
Association type: MENDELIAN
Gene: NFKB2
Disease: Deficiency in anterior pituitary function-variable immunodeficiency syndrome; DAVID syndrome (ORPHA:293978)
Association type: UNKNOWN
Gene: PPT1
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 (OMIM:256730)
Association type: MENDELIAN
Gene: PPT1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PPT1
Disease:  (ORPHA:699745)
Association type: UNKNOWN
Gene: PPT1
Disease:  (ORPHA:699739)
Association type: UNKNOWN
Gene: PPT1
Disease:  (ORPHA:699734)
Association type: UNKNOWN
Gene: PPT1
Disease:  (ORPHA:699718)
Association type: UNKNOWN
Gene: SFXN4
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Association type: MENDELIAN
Gene: SFXN4
Disease: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome (ORPHA:391348)
Association type: UNKNOWN
Gene: SOX3
Disease: PANHYPOPITUITARISM, X-LINKED (OMIM:312000)
Association type: MENDELIAN
Gene: SOX3
Disease: MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM (OMIM:300123)
Association type: MENDELIAN
Gene: SOX3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SOX3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SOX3
Disease: 46,XX testicular difference of sex development; 46,XX testicular DSD; 46,XX testicular disorder of sex development; De la Chapelle syndrome; XX, male syndrome (ORPHA:393)
Association type: UNKNOWN
Gene: SOX3
Disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Association type: UNKNOWN
Gene: SOX3
Disease: Septo-optic dysplasia spectrum; De Morsier syndrome; SOD; Septo-optic dysplasia (ORPHA:3157)
Association type: UNKNOWN
Gene: SOX3
Disease: X-linked congenital generalized hypertrichosis; Congenital generalized hypertrichosis, Macias-Flores type; Macias Flores-Garcia Cruz-Rivera syndrome (ORPHA:79495)
Association type: UNKNOWN
Gene: SOX3
Disease: X-linked intellectual disability with isolated growth hormone deficiency; MRGH (ORPHA:67045)
Association type: UNKNOWN
Gene: CLN5
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Association type: MENDELIAN
Gene: CLN5
Disease: CLN5 disease; Neuronal ceroid lipofuscinosis type 5 (ORPHA:228360)
Association type: UNKNOWN
Gene: CLN5
Disease:  (ORPHA:699812)
Association type: UNKNOWN
Gene: CLN5
Disease:  (ORPHA:699807)
Association type: UNKNOWN
Gene: CLN5
Disease:  (ORPHA:699802)
Association type: UNKNOWN
Gene: FBXO38
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID (OMIM:615575)
Association type: MENDELIAN
Gene: FBXO38
Disease: Distal hereditary motor neuropathy type 2; Distal spinal muscular atrophy type 2; dHMN2; dSMA2 (ORPHA:139525)
Association type: UNKNOWN
Gene: MED23
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
Association type: MENDELIAN
Gene: MED23
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: RPGR
Disease: RETINITIS PIGMENTOSA 3 (OMIM:300029)
Association type: MENDELIAN
Gene: RPGR
Disease: RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS (OMIM:300455)
Association type: MENDELIAN
Gene: RPGR
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RPGR
Disease: MACULAR DEGENERATION, X-LINKED ATROPHIC (OMIM:300834)
Association type: MENDELIAN
Gene: RPGR
Disease: CONE-ROD DYSTROPHY, X-LINKED, 1 (OMIM:304020)
Association type: MENDELIAN
Gene: RPGR
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: RPGR
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: RPGR
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: RPGR
Disease: Achromatopsia; ACHM; Complete or incomplete color blindness; Pingelapese blindness; Rod monochromacy; Rod monochromatism; Total color blindness (ORPHA:49382)
Association type: UNKNOWN
Gene: RPGR
Disease: Primary ciliary dyskinesia-retinitis pigmentosa syndrome (ORPHA:247522)
Association type: UNKNOWN
Gene: MOG
Disease: NARCOLEPSY 7 (OMIM:614250)
Association type: MENDELIAN
Gene: MOG
Disease: Narcolepsy type 1; Gélineau disease; Hypocretin/orexin deficiency syndrome; Narcolepsy-cataplexy (ORPHA:2073)
Association type: UNKNOWN
Gene: EIF4G1
Disease: PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
Association type: POLYGENIC
Gene: EIF4G1
Disease: Hereditary late-onset Parkinson disease; Autosomal dominant late-onset Parkinson disease; LOPD (ORPHA:411602)
Association type: UNKNOWN
Gene: PUF60
Disease: VERHEIJ SYNDROME (OMIM:615583)
Association type: MENDELIAN
Gene: PUF60
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PUF60
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PUF60
Disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Association type: UNKNOWN
Gene: PUF60
Disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Deletion 8q24.3; Monosomy 8q24.3 (ORPHA:508488)
Association type: UNKNOWN
Gene: EPB41L1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Association type: MENDELIAN
Gene: EPB41L1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: CACNG2
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (OMIM:614256)
Association type: MENDELIAN
Gene: CACNG2
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: HSF4
Disease: CATARACT 5, MULTIPLE TYPES (OMIM:116800)
Association type: MENDELIAN
Gene: HSF4
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: HSF4
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: FBXL4
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471)
Association type: MENDELIAN
Gene: FBXL4
Disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (ORPHA:369897)
Association type: UNKNOWN
Gene: CACNA1D
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES (OMIM:615474)
Association type: MENDELIAN
Gene: CACNA1D
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS (OMIM:614896)
Association type: MENDELIAN
Gene: CACNA1D
Disease: Sinoatrial node dysfunction and deafness; Sinoatrial node dysfunction and hearing loss (ORPHA:324321)
Association type: UNKNOWN
Gene: CACNA1D
Disease: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome (ORPHA:369929)
Association type: UNKNOWN
Gene: GNAO1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17 (OMIM:615473)
Association type: MENDELIAN
Gene: GNAO1
Disease: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS (OMIM:617493)
Association type: MENDELIAN
Gene: GNAO1
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: GNAO1
Disease: GNAO1-related developmental delay-seizures-movement disorder spectrum; GNAO1-related neurodevelopmental disorder; GNAO1-related spectrum (ORPHA:592564)
Association type: UNKNOWN
Gene: SZT2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18 (OMIM:615476)
Association type: MENDELIAN
Gene: SZT2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: TMEM67
Disease: RHYNS SYNDROME (OMIM:602152)
Association type: MENDELIAN
Gene: TMEM67
Disease: JOUBERT SYNDROME 6 (OMIM:610688)
Association type: MENDELIAN
Gene: TMEM67
Disease: COACH SYNDROME 1 (OMIM:216360)
Association type: MENDELIAN
Gene: TMEM67
Disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Association type: POLYGENIC
Gene: TMEM67
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TMEM67
Disease: MECKEL SYNDROME, TYPE 3 (OMIM:607361)
Association type: MENDELIAN
Gene: TMEM67
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TMEM67
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TMEM67
Disease: NEPHRONOPHTHISIS 11 (OMIM:613550)
Association type: MENDELIAN
Gene: TMEM67
Disease: Joubert syndrome with hepatic defect; COACH syndrome; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; JS-H; Joubert syndrome with congenital hepatic fibrosis (ORPHA:1454)
Association type: UNKNOWN
Gene: TMEM67
Disease: Senior-Boichis syndrome; Boichis disease; Nephronophthisis-hepatic fibrosis syndrome (ORPHA:84081)
Association type: UNKNOWN
Gene: TMEM67
Disease: RHYNS syndrome; Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome (ORPHA:140976)
Association type: UNKNOWN
Gene: TMEM67
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: TMEM67
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: UBR1
Disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Association type: MENDELIAN
Gene: UBR1
Disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Association type: UNKNOWN
Gene: RSPH1
Disease: CILIARY DYSKINESIA, PRIMARY, 24 (OMIM:615481)
Association type: MENDELIAN
Gene: RSPH1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: DNAAF4
Disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Association type: MENDELIAN
Gene: DNAAF4
Disease: DYSLEXIA, SUSCEPTIBILITY TO, 1 (OMIM:127700)
Association type: POLYGENIC
Gene: DNAAF4
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ASXL3
Disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Association type: MENDELIAN
Gene: ASXL3
Disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Association type: UNKNOWN
Gene: DIABLO
Disease: DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
Association type: MENDELIAN
Gene: DIABLO
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: NOP56
Disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Association type: MENDELIAN
Gene: NOP56
Disease: Spinocerebellar ataxia type 36; Asidan; SCA36 (ORPHA:276198)
Association type: UNKNOWN
Gene: BLVRA
Disease: HYPERBILIVERDINEMIA (OMIM:614156)
Association type: MENDELIAN
Gene: BLVRA
Disease: Hyperbiliverdinemia; Green jaundice (ORPHA:276405)
Association type: UNKNOWN
Gene: ABCB1
Disease: COLCHICINE RESISTANCE (OMIM:120080)
Association type: POLYGENIC
Gene: ABCB1
Disease:  (OMIM:620950)
Association type: MENDELIAN
Gene: ABCB1
Disease: INFLAMMATORY BOWEL DISEASE 13 (OMIM:612244)
Association type: POLYGENIC
Gene: FANCF
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F (OMIM:603467)
Association type: MENDELIAN
Gene: FANCF
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Association type: MENDELIAN
Gene: FANCF
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: STAT1
Disease: IMMUNODEFICIENCY 31C (OMIM:614162)
Association type: MENDELIAN
Gene: STAT1
Disease: IMMUNODEFICIENCY 31B (OMIM:613796)
Association type: MENDELIAN
Gene: STAT1
Disease: IMMUNODEFICIENCY 31A (OMIM:614892)
Association type: MENDELIAN
Gene: STAT1
Disease: Susceptibility to viral and mycobacterial infections due to STAT1 deficiency; Predisposition to severe viral infection due to STAT1 deficiency; STAT1 deficiency (ORPHA:391311)
Association type: UNKNOWN
Gene: STAT1
Disease: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
Association type: UNKNOWN
Gene: STAT1
Disease: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; MSMD due to partial STAT1 deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency (ORPHA:319595)
Association type: UNKNOWN
Gene: TRIM2
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R (OMIM:615490)
Association type: MENDELIAN
Gene: TRIM2
Disease: Charcot-Marie-Tooth disease type 2R; CMT2R (ORPHA:397968)
Association type: UNKNOWN
Gene: ACVR1B
Disease: PANCREATIC CANCER (OMIM:260350)
Association type: MENDELIAN
Gene: MSTN
Disease: MUSCLE HYPERTROPHY (OMIM:614160)
Association type: MENDELIAN
Gene: PCK1
Disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC (OMIM:261680)
Association type: MENDELIAN
Gene: PCK1
Disease: Phosphoenolpyruvate carboxykinase deficiency; PEPCK deficiency (ORPHA:2880)
Association type: UNKNOWN
Gene: CRY1
Disease: DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO (OMIM:614163)
Association type: POLYGENIC
Gene: GPX1
Disease: GLUTATHIONE PEROXIDASE DEFICIENCY (OMIM:614164)
Association type: MENDELIAN
Gene: ZNF644
Disease: MYOPIA 21, AUTOSOMAL DOMINANT (OMIM:614167)
Association type: MENDELIAN
Gene: ZNF644
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: FRMD7
Disease: NYSTAGMUS 1, CONGENITAL, X-LINKED (OMIM:310700)
Association type: MENDELIAN
Gene: SMCHD1
Disease: BOSMA ARHINIA MICROPHTHALMIA SYNDROME (OMIM:603457)
Association type: MENDELIAN
Gene: SMCHD1
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
Association type: MENDELIAN
Gene: SMCHD1
Disease: Facioscapulohumeral dystrophy; FSH dystrophy; FSHD; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; Landouzy-Dejerine dystrophy; Landouzy-Dejerine myopathy (ORPHA:269)
Association type: UNKNOWN
Gene: SMCHD1
Disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome; Bosma arhinia-microphthalmia syndrome; Bosma-Henkin-Christiansen syndrome (ORPHA:2250)
Association type: UNKNOWN
Gene: TCTN1
Disease: JOUBERT SYNDROME 13 (OMIM:614173)
Association type: MENDELIAN
Gene: TCTN1
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: TCTN1
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: PRDM5
Disease: BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Association type: MENDELIAN
Gene: PRDM5
Disease: Brittle cornea syndrome; Ehlers-Danlos syndrome type 6B (ORPHA:90354)
Association type: UNKNOWN
Gene: BLOC1S6
Disease: HERMANSKY-PUDLAK SYNDROME 9 (OMIM:614171)
Association type: MENDELIAN
Gene: BLOC1S6
Disease: Hermansky-Pudlak syndrome due to BLOC-1 deficiency (ORPHA:231531)
Association type: UNKNOWN
Gene: PGAM2
Disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Association type: MENDELIAN
Gene: PGAM2
Disease: Glycogen storage disease due to phosphoglycerate mutase deficiency; DiMauro disease; GSD due to phosphoglycerate mutase 2 deficiency; GSD type 10; Glycogen storage disease due to PGAM2 deficiency; Glycogen storage disease due to phosphoglycerate mutase 2 deficiency; Glycogen storage disease, type 10; Glycogen storage disease, type X; Glycogenosis due to phosphoglycerate mutase 2 deficiency; Muscle phosphoglycerate mutase deficiency; Myopathy due to phosphoglycerate mutase deficiency; PGAM deficiency; PGAM-M  deficiency (ORPHA:97234)
Association type: UNKNOWN
Gene: B9D2
Disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Association type: MENDELIAN
Gene: B9D2
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: B9D2
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: CLN3
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Association type: MENDELIAN
Gene: CLN3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CLN3
Disease:  (ORPHA:699796)
Association type: UNKNOWN
Gene: CLN3
Disease:  (ORPHA:699780)
Association type: UNKNOWN
Gene: CYP4F22
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (OMIM:604777)
Association type: MENDELIAN
Gene: CYP4F22
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: ABCA12
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (OMIM:242500)
Association type: MENDELIAN
Gene: ABCA12
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A (OMIM:601277)
Association type: MENDELIAN
Gene: ABCA12
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: ABCA12
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: ABCA12
Disease: Harlequin ichthyosis; Autosomal congenital ichthyosis, Harlequin type; HI; Ichthyosis congenita, Harlequin type (ORPHA:457)
Association type: UNKNOWN
Gene: MAK
Disease: RETINITIS PIGMENTOSA 62 (OMIM:614181)
Association type: MENDELIAN
Gene: MAK
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MAK
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: IL11RA
Disease: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
Association type: MENDELIAN
Gene: IL11RA
Disease: Craniosynostosis-dental anomalies; Kreiborg-Pakistani syndrome (ORPHA:284149)
Association type: UNKNOWN
Gene: AIP
Disease: PITUITARY ADENOMA 1, MULTIPLE TYPES (OMIM:102200)
Association type: MENDELIAN
Gene: AIP
Disease: PITUITARY ADENOMA 4, ACTH-SECRETING (OMIM:219090)
Association type: MENDELIAN
Gene: AIP
Disease: Acromegaly (ORPHA:963)
Association type: UNKNOWN
Gene: AIP
Disease: Prolactinoma; Lactotroph adenoma; PRL-secreting pituitary adenoma; PRLoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma (ORPHA:2965)
Association type: UNKNOWN
Gene: AIP
Disease: Null pituitary adenoma (ORPHA:314790)
Association type: UNKNOWN
Gene: AIP
Disease: Silent pituitary adenoma (ORPHA:314786)
Association type: UNKNOWN
Gene: AIP
Disease: Familial isolated pituitary adenoma; FIPA (ORPHA:314777)
Association type: UNKNOWN
Gene: AIP
Disease: Pituitary gigantism; Hypophyseal gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Association type: UNKNOWN
Gene: DES
Disease: CARDIOMYOPATHY, DILATED, 1I (OMIM:604765)
Association type: MENDELIAN
Gene: DES
Disease: MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
Association type: MENDELIAN
Gene: DES
Disease: SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE (OMIM:181400)
Association type: MENDELIAN
Gene: DES
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: DES
Disease: Desminopathy; Desmin-related myofibrillar myopathy (ORPHA:98909)
Association type: UNKNOWN
Gene: DES
Disease: Neurogenic scapuloperoneal syndrome, Kaeser type; Kaeser syndrome; Stark-Kaeser syndrome (ORPHA:85146)
Association type: UNKNOWN
Gene: VSX1
Disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Association type: MENDELIAN
Gene: VSX1
Disease: KERATOCONUS 1 (OMIM:148300)
Association type: MENDELIAN
Gene: VSX1
Disease: Posterior polymorphous corneal dystrophy; PPCD; Posterior polymorphous dystrophy; Schlichting dystrophy (ORPHA:98973)
Association type: UNKNOWN
Gene: PTPRO
Disease: NEPHROTIC SYNDROME, TYPE 6 (OMIM:614196)
Association type: MENDELIAN
Gene: PTPRO
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: MSMB
Disease: PROSTATE CANCER, HEREDITARY, 13 (OMIM:611928)
Association type: POLYGENIC
Gene: MSMB
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: MSX2
Disease: CRANIOSYNOSTOSIS 2 (OMIM:604757)
Association type: MENDELIAN
Gene: MSX2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MSX2
Disease: PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA (OMIM:168550)
Association type: MENDELIAN
Gene: MSX2
Disease: PARIETAL FORAMINA 1 (OMIM:168500)
Association type: MENDELIAN
Gene: MSX2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MSX2
Disease: Enlarged parietal foramina; Catlin marks; Fenestrae parietales symmetricae; Foramina parietalia permagna; Hereditary cranium bifidum; Symmetric parietal foramina (ORPHA:60015)
Association type: UNKNOWN
Gene: MSX2
Disease: Craniosynostosis, Boston type; Craniosynostosis, Warman type; Warman-Mulliken-Hayward syndrome (ORPHA:1541)
Association type: UNKNOWN
Gene: MSX2
Disease: Parietal foramina with clavicular hypoplasia; Parietal foramina with cleidocranial dysplasia (ORPHA:251290)
Association type: UNKNOWN
Gene: GLB1
Disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Association type: MENDELIAN
Gene: GLB1
Disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Association type: MENDELIAN
Gene: GLB1
Disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Association type: MENDELIAN
Gene: GLB1
Disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Association type: MENDELIAN
Gene: GLB1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GLB1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GLB1
Disease: Mucopolysaccharidosis type 4B; Beta-D-galactosidase deficiency; MPS4B; MPSIVB; Morquio disease type B; Mucopolysaccharidosis type IVB (ORPHA:309310)
Association type: UNKNOWN
Gene: GLB1
Disease: GM1 gangliosidosis type 1; Infantile GM1 gangliosidosis; Norman-Landing disease (ORPHA:79255)
Association type: UNKNOWN
Gene: GLB1
Disease: GM1 gangliosidosis type 2; Juvenile GM1 gangliosidosis; Late-infantile GM1 gangliosidosis (ORPHA:79256)
Association type: UNKNOWN
Gene: GLB1
Disease: GM1 gangliosidosis type 3; Adult-onset GM1 gangliosidosis (ORPHA:79257)
Association type: UNKNOWN
Gene: SLC6A6
Disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Association type: MENDELIAN
Gene: CYP11B2
Disease: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY (OMIM:610600)
Association type: MENDELIAN
Gene: CYP11B2
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE I (OMIM:103900)
Association type: MENDELIAN
Gene: CYP11B2
Disease: CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY (OMIM:203400)
Association type: MENDELIAN
Gene: CYP11B2
Disease: Familial hyperaldosteronism type I; Dexamethasone-sensitive hypertension; FH-I; FH1; Familial hyperaldosteronism type 1; GRA; Glucocorticoid-remediable aldosteronism; Glucocorticoid-sensitive hypertension (ORPHA:403)
Association type: UNKNOWN
Gene: CYP11B2
Disease: Early-onset familial hypoaldosteronism; Early-onset familial hyperreninemic hypoaldosteronism; Severe aldosterone synthase deficiency (ORPHA:556030)
Association type: UNKNOWN