TaoMedAI/RareMedData huggingface dataset:
Gene: MYCN
Disease: Feingold syndrome type 1; Brunner-Winter syndrome type 1; Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; FGLDS1; FS1; MMT type 1; MODED syndrome type 1; Microcephaly-digital anomalies-normal intelligence syndrome type 1; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; ODED syndrome type 1; Oculo-digito-esophageal-duodenal syndrome type 1 (ORPHA:391641)
Association type: UNKNOWN
Gene: MYCN
Disease: Non-hereditary retinoblastoma (ORPHA:357034)
Association type: UNKNOWN
Gene: MYCN
Disease: Hereditary retinoblastoma (ORPHA:357027)
Association type: UNKNOWN
Gene: WBP11
Disease: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS (OMIM:619227)
Association type: MENDELIAN
Gene: SATB1
Disease: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES (OMIM:619228)
Association type: MENDELIAN
Gene: SATB1
Disease: KOHLSCHUTTER-TONZ SYNDROME-LIKE (OMIM:619229)
Association type: MENDELIAN
Gene: SATB1
Disease: Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome; Den Hoed-De Boer-Voisin syndrome (ORPHA:684232)
Association type: UNKNOWN
Gene: SIX5
Disease: BRANCHIOOTORENAL SYNDROME 2 (OMIM:610896)
Association type: MENDELIAN
Gene: SIX5
Disease: BOR syndrome; Branchiootorenal spectrum disorder; Branchiootorenal syndrome; Melnick-Fraser syndrome (ORPHA:107)
Association type: UNKNOWN
Gene: NAE1
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA (OMIM:620210)
Association type: MENDELIAN
Gene: SLC25A36
Disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8 (OMIM:620211)
Association type: MENDELIAN
Gene: H6PD
Disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Association type: MENDELIAN
Gene: H6PD
Disease: Hyperandrogenism due to cortisone reductase deficiency; 11-beta-hydroxysteroid dehydrogenase deficiency type 1 (ORPHA:168588)
Association type: UNKNOWN
Gene: POLR3GL
Disease: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY (OMIM:619234)
Association type: MENDELIAN
Gene: BAAT
Disease: BILE ACID CONJUGATION DEFECT 1 (OMIM:619232)
Association type: MENDELIAN
Gene: BAAT
Disease: Familial hypercholanemia; Hereditary hypercholanemia (ORPHA:238475)
Association type: UNKNOWN
Gene: USP48
Disease: DEAFNESS, AUTOSOMAL DOMINANT 85 (OMIM:620227)
Association type: MENDELIAN
Gene: USP48
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: USP48
Disease: Cushing disease; Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary-dependent Cushing syndrome (ORPHA:96253)
Association type: UNKNOWN
Gene: CD4
Disease: IMMUNODEFICIENCY 79 (OMIM:619238)
Association type: MENDELIAN
Gene: CD4
Disease: OKT4 EPITOPE DEFICIENCY (OMIM:613949)
Association type: MENDELIAN
Gene: SAG
Disease: RETINITIS PIGMENTOSA 96 (OMIM:620228)
Association type: MENDELIAN
Gene: SAG
Disease: OGUCHI DISEASE 1 (OMIM:258100)
Association type: MENDELIAN
Gene: SAG
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SAG
Disease: RETINITIS PIGMENTOSA 47 (OMIM:613758)
Association type: MENDELIAN
Gene: SAG
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: SAG
Disease: Oguchi disease; Congenital stationary night blindness, Oguchi type; Oguchi syndrome (ORPHA:75382)
Association type: UNKNOWN
Gene: SAG
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CUL3
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES (OMIM:619239)
Association type: MENDELIAN
Gene: CUL3
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IIE (OMIM:614496)
Association type: MENDELIAN
Gene: CUL3
Disease: Pseudohypoaldosteronism type 2E; PHA2E (ORPHA:300530)
Association type: UNKNOWN
Gene: CUL3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ASL
Disease: ARGININOSUCCINIC ACIDURIA (OMIM:207900)
Association type: MENDELIAN
Gene: ASL
Disease: Argininosuccinic aciduria; ASA deficiency; ASL deficiency; Argininosuccinase deficiency; Argininosuccinatelyase deficiency; Argininosuccinic acid lyase deficiency (ORPHA:23)
Association type: UNKNOWN
Gene: TRPM3
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Association type: MENDELIAN
Gene: TRPM3
Disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Association type: MENDELIAN
Gene: TRPM3
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: UCHL1
Disease: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA (OMIM:620221)
Association type: MENDELIAN
Gene: UCHL1
Disease: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
Association type: MENDELIAN
Gene: UCHL1
Disease: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
Association type: POLYGENIC
Gene: UCHL1
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: UCHL1
Disease: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; Autosomal recessive spastic paraplegia type 79 (ORPHA:352654)
Association type: UNKNOWN
Gene: HPGD
Disease: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 (OMIM:259100)
Association type: MENDELIAN
Gene: HPGD
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HPGD
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HPGD
Disease: DIGITAL CLUBBING, ISOLATED CONGENITAL (OMIM:119900)
Association type: MENDELIAN
Gene: HPGD
Disease: Pachydermoperiostosis; PDP; Touraine-Solente-Gole syndrome (ORPHA:2796)
Association type: UNKNOWN
Gene: HPGD
Disease: Cranio-osteoarthropathy; Currarino disease; Currarino idiopathic osteoarthropathy; Reginato-Schiapachasse syndrome (ORPHA:1525)
Association type: UNKNOWN
Gene: HPGD
Disease: Isolated nail clubbing; Isolated congenital acropachy; Isolated congenital digital clubbing (ORPHA:217059)
Association type: UNKNOWN
Gene: PIEZO2
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 5 (OMIM:108145)
Association type: MENDELIAN
Gene: PIEZO2
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 3 (OMIM:114300)
Association type: MENDELIAN
Gene: PIEZO2
Disease: MARDEN-WALKER SYNDROME (OMIM:248700)
Association type: MENDELIAN
Gene: PIEZO2
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: PIEZO2
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: PIEZO2
Disease: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH (OMIM:617146)
Association type: MENDELIAN
Gene: PIEZO2
Disease: Gordon syndrome; Camptodactyly-cleft palate-clubfoot syndrome; Distal arthrogryposis type 3; Distal arthrogryposis type IIA (ORPHA:376)
Association type: UNKNOWN
Gene: PIEZO2
Disease: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Distal arthrogryposis type 5; Distal arthrogryposis type IIB; Distal arthrogryposis with ophthalmoplegia; Oculomelic amyoplasia (ORPHA:1154)
Association type: UNKNOWN
Gene: PIEZO2
Disease: Marden-Walker syndrome (ORPHA:2461)
Association type: UNKNOWN
Gene: HSF2BP
Disease: PREMATURE OVARIAN FAILURE 19 (OMIM:619245)
Association type: MENDELIAN
Gene: CISD2
Disease: WOLFRAM SYNDROME 2 (OMIM:604928)
Association type: MENDELIAN
Gene: CISD2
Disease: Wolfram syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome; Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome; DIDMOAD syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome; Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome (ORPHA:3463)
Association type: UNKNOWN
Gene: FREM1
Disease: MANITOBA OCULOTRICHOANAL SYNDROME (OMIM:248450)
Association type: MENDELIAN
Gene: FREM1
Disease: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES (OMIM:608980)
Association type: MENDELIAN
Gene: FREM1
Disease: TRIGONOCEPHALY 2 (OMIM:614485)
Association type: MENDELIAN
Gene: FREM1
Disease: Oculotrichoanal syndrome; MOTA syndrome; Manitoba oculotrichoanal syndrome; Marles syndrome; Marles-Greenberg-Persaud syndrome (ORPHA:2717)
Association type: UNKNOWN
Gene: FREM1
Disease: Non-syndromic metopic craniosynostosis; Isolated metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Association type: UNKNOWN
Gene: FREM1
Disease: Renal agenesis, unilateral (ORPHA:93100)
Association type: UNKNOWN
Gene: FREM1
Disease: BNAR syndrome; Bifid nose with or without anorectal and renal anomalies (ORPHA:217266)
Association type: UNKNOWN
Gene: FLVCR2
Disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Association type: MENDELIAN
Gene: FLVCR2
Disease: Fowler vasculopathy; Cerebral proliferative glomeruloid vasculopathy; Encephaloclastic proliferative vasculopathy; Hydrocephaly/hydranencephaly due to cerebral vasculopathy; Proliferative vasculopathy and hydranencephaly/hydrocephaly (ORPHA:221126)
Association type: UNKNOWN
Gene: TNRC6B
Disease: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES (OMIM:619243)
Association type: MENDELIAN
Gene: TNRC6B
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: AQP1
Disease: BLOOD GROUP, COLTON SYSTEM (OMIM:110450)
Association type: MENDELIAN
Gene: TTC5
Disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Association type: MENDELIAN
Gene: TTC5
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: MINAR2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 120 (OMIM:620238)
Association type: MENDELIAN
Gene: MINAR2
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: KLHL24
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES (OMIM:620236)
Association type: MENDELIAN
Gene: KLHL24
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS (OMIM:617294)
Association type: MENDELIAN
Gene: KLHL24
Disease: Intermediate epidermolysis bullosa simplex with cardiomyopathy; Intermediate EBS with cardiomyopathy (ORPHA:508529)
Association type: UNKNOWN
Gene: OBSCN
Disease: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 (OMIM:620235)
Association type: POLYGENIC
Gene: OBSCN
Disease: Genetic recurrent myoglobinuria (ORPHA:99845)
Association type: UNKNOWN
Gene: NFATC2
Disease: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA (OMIM:620232)
Association type: MENDELIAN
Gene: AGR2
Disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Association type: MENDELIAN
Gene: SLC25A19
Disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Association type: MENDELIAN
Gene: SLC25A19
Disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Association type: MENDELIAN
Gene: SLC25A19
Disease: Progressive polyneuropathy with bilateral striatal necrosis (ORPHA:217396)
Association type: UNKNOWN
Gene: SLC25A19
Disease: Amish lethal microcephaly (ORPHA:99742)
Association type: UNKNOWN
Gene: EMG1
Disease: BOWEN-CONRADI SYNDROME (OMIM:211180)
Association type: MENDELIAN
Gene: EMG1
Disease: Bowen-Conradi syndrome; Bowen syndrome, Hutterite type (ORPHA:1270)
Association type: UNKNOWN
Gene: CTNS
Disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Association type: MENDELIAN
Gene: CTNS
Disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Association type: MENDELIAN
Gene: CTNS
Disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Association type: MENDELIAN
Gene: CTNS
Disease: Infantile nephropathic cystinosis (ORPHA:411629)
Association type: UNKNOWN
Gene: CTNS
Disease: Ocular cystinosis; Adult-onset cystinosis; Non-nephropathic cystinosis (ORPHA:411641)
Association type: UNKNOWN
Gene: CTNS
Disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Association type: UNKNOWN
Gene: SLC10A1
Disease: HYPERCHOLANEMIA, FAMILIAL, 2 (OMIM:619256)
Association type: MENDELIAN
Gene: SLC10A1
Disease: Familial hypercholanemia; Hereditary hypercholanemia (ORPHA:238475)
Association type: UNKNOWN
Gene: ACTL9
Disease: SPERMATOGENIC FAILURE 53 (OMIM:619258)
Association type: MENDELIAN
Gene: ACTL9
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: SDHA
Disease: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY (OMIM:619259)
Association type: MENDELIAN
Gene: SDHA
Disease: PARAGANGLIOMAS 5 (OMIM:614165)
Association type: MENDELIAN
Gene: SDHA
Disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252011)
Association type: MENDELIAN
Gene: SDHA
Disease: CARDIOMYOPATHY, DILATED, 1GG (OMIM:613642)
Association type: MENDELIAN
Gene: SDHA
Disease: Isolated succinate-CoQ reductase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate dehydrogenase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Association type: UNKNOWN
Gene: SDHA
Disease: Gastrointestinal stromal tumor; GIST; Gastrointestinal stromal sarcoma (ORPHA:44890)
Association type: UNKNOWN
Gene: SDHA
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: SDHA
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: KIF21A
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 (OMIM:135700)
Association type: MENDELIAN
Gene: KIF21A
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: KIF21A
Disease: Congenital fibrosis of extraocular muscles; FEOM (ORPHA:45358)
Association type: UNKNOWN
Gene: COPB1
Disease: BARALLE-MACKEN SYNDROME (OMIM:619255)
Association type: MENDELIAN
Gene: COPB1
Disease: Intellectual disability-early-onset cataract-microcephaly syndrome; Baralle-Macken syndrome (ORPHA:633035)
Association type: UNKNOWN
Gene: VEZF1
Disease: CARDIOMYOPATHY, DILATED, 1OO (OMIM:620247)
Association type: MENDELIAN
Gene: VEZF1
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: SLC6A4
Disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Association type: POLYGENIC
Gene: SLC6A4
Disease: ANXIETY (OMIM:607834)
Association type: POLYGENIC
Gene: HTR2A
Disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Association type: POLYGENIC
Gene: HTR2A
Disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Association type: POLYGENIC
Gene: HTR2A
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: TMEM151A
Disease: EPISODIC KINESIGENIC DYSKINESIA 3 (OMIM:620245)
Association type: MENDELIAN
Gene: CACNA1S
Disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Association type: MENDELIAN
Gene: CACNA1S
Disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Association type: MENDELIAN
Gene: CACNA1S
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Association type: POLYGENIC
Gene: CACNA1S
Disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 (OMIM:601887)
Association type: POLYGENIC
Gene: CACNA1S
Disease: Thyrotoxic periodic paralysis; Thyrotoxic hypokalemic periodic paralysis (ORPHA:79102)
Association type: UNKNOWN
Gene: CACNA1S
Disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Association type: UNKNOWN
Gene: CACNA1S
Disease: Periodic paralysis with transient compartment-like syndrome (ORPHA:397755)
Association type: UNKNOWN
Gene: CACNA1S
Disease: Malignant hyperthermia of anesthesia; Hyperthermia of anesthesia (ORPHA:423)
Association type: UNKNOWN
Gene: TMEM163
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 25 (OMIM:620243)
Association type: MENDELIAN
Gene: THSD1
Disease: LYMPHATIC MALFORMATION 13 (OMIM:620244)
Association type: MENDELIAN
Gene: THSD1
Disease: ANEURYSM, INTRACRANIAL BERRY, 12 (OMIM:618734)
Association type: MENDELIAN
Gene: THSD1
Disease: Non-immune hydrops fetalis; NIHF; Non-immune HF; Non-immune fetal edema; Non-immune fetal hydrops (ORPHA:363999)
Association type: UNKNOWN
Gene: THSD1
Disease: Familial cerebral saccular aneurysm; Familial berry aneurysm; Familial intracranial saccular aneurysm (ORPHA:231160)
Association type: UNKNOWN
Gene: SMARCC1
Disease: HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO (OMIM:620241)
Association type: POLYGENIC
Gene: ATP9A
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Association type: MENDELIAN
Gene: ATP9A
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: GOLGA2
Disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)
Association type: MENDELIAN
Gene: NMNAT1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS (OMIM:619260)
Association type: MENDELIAN
Gene: NMNAT1
Disease: LEBER CONGENITAL AMAUROSIS 9 (OMIM:608553)
Association type: MENDELIAN
Gene: NMNAT1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NMNAT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NMNAT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NMNAT1
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: NMNAT1
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: ITGB3
Disease: GLANZMANN THROMBASTHENIA 2 (OMIM:619267)
Association type: MENDELIAN
Gene: ITGB3
Disease:  (OMIM:621264)
Association type: MENDELIAN
Gene: ITGB3
Disease: BLEEDING DISORDER, PLATELET-TYPE, 24 (OMIM:619271)
Association type: MENDELIAN
Gene: ITGB3
Disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Association type: UNKNOWN
Gene: ITGB3
Disease: Glanzmann thrombasthenia (ORPHA:849)
Association type: UNKNOWN
Gene: ITGB3
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: DISC1
Disease: SCHIZOPHRENIA 9 (OMIM:604906)
Association type: POLYGENIC
Gene: SMG8
Disease: ALZAHRANI-KUWAHARA SYNDROME (OMIM:619268)
Association type: MENDELIAN
Gene: SMG8
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ECM1
Disease: LIPOID PROTEINOSIS OF URBACH AND WIETHE (OMIM:247100)
Association type: MENDELIAN
Gene: ECM1
Disease: Lipoid proteinosis; Hyalinosis cutis et mucosae; Urbach-Wiethe disease (ORPHA:530)
Association type: UNKNOWN
Gene: MIA3
Disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Association type: MENDELIAN
Gene: MIA3
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: MIA3
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: ITGA8
Disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Association type: MENDELIAN
Gene: ITGA8
Disease: Renal agenesis, bilateral (ORPHA:1848)
Association type: UNKNOWN
Gene: DAAM2
Disease: NEPHROTIC SYNDROME, TYPE 24 (OMIM:619263)
Association type: MENDELIAN
Gene: DAAM2
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: EMC10
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Association type: MENDELIAN
Gene: EMC10
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PHKA2
Disease: GLYCOGEN STORAGE DISEASE IXa1 (OMIM:306000)
Association type: MENDELIAN
Gene: PHKA2
Disease: Glycogen storage disease due to liver phosphorylase kinase deficiency; GSD due to liver phosphorylase kinase deficiency; GSD type 9A; GSD type 9C; GSD type IXa; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXa; Glycogen storage disease type IXc; Glycogenosis due to liver phosphorylase kinase deficiency; Glycogenosis type 9A; Glycogenosis type 9C; Glycogenosis type IXa; Glycogenosis type IXc; XLG (ORPHA:264580)
Association type: UNKNOWN
Gene: SMARCE1
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Association type: POLYGENIC
Gene: SMARCE1
Disease: COFFIN-SIRIS SYNDROME 5 (OMIM:616938)
Association type: MENDELIAN
Gene: SMARCE1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMARCE1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMARCE1
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: SMARCE1
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: SMARCE1
Disease: Familial multiple meningioma (ORPHA:263662)
Association type: UNKNOWN
Gene: MN1
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Association type: MENDELIAN
Gene: MN1
Disease: CEBALID SYNDROME (OMIM:618774)
Association type: MENDELIAN
Gene: MN1
Disease:  (ORPHA:693549)
Association type: UNKNOWN
Gene: MN1
Disease: Familial multiple meningioma (ORPHA:263662)
Association type: UNKNOWN
Gene: NF2
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Association type: MENDELIAN
Gene: NF2
Disease: NEUROFIBROMATOSIS, TYPE II (OMIM:101000)
Association type: MENDELIAN
Gene: NF2
Disease: Full schwannomatosis; Full NF3; Full SWN; Full neurofibromatosis type 3; Neurilemmomatosis; Nonmosaic schwannomatosis (ORPHA:93921)
Association type: UNKNOWN
Gene: NF2
Disease: Mosaic NF2-related schwannomatosis; MNF2; Mosaic NF2; Mosaic neurofibromatosis type 2 (ORPHA:634475)
Association type: UNKNOWN
Gene: NF2
Disease: Full NF2-related schwannomatosis; Full NF2; Full neurofibromatosis type 2; Nonmosaic NF2-related schwannomatosis; Nonmosaic neurofibromatosis type 2 (ORPHA:637)
Association type: UNKNOWN
Gene: NF2
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: PDGFB
Disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Association type: MENDELIAN
Gene: PDGFB
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Association type: MENDELIAN
Gene: PDGFB
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 (OMIM:615483)
Association type: MENDELIAN
Gene: PDGFB
Disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Association type: UNKNOWN
Gene: PDGFB
Disease: Bilateral striopallidodentate calcinosis; BSPDC; Cerebrovascular ferrocalcinosis; Idiopathic basal ganglia calcification; PFBC; Primary familial brain calcification (ORPHA:1980)
Association type: UNKNOWN