TaoMedAI/RareMedData huggingface dataset:
Gene: IQSEC2
Disease: MENTAL RETARDATION, X-LINKED 1 (OMIM:309530)
Association type: MENDELIAN
Gene: IQSEC2
Disease: Microduplication Xp11.22p11.23 syndrome; Dup(X)(p11.22p11.23); Trisomy Xp11.22p11.23 (ORPHA:217377)
Association type: UNKNOWN
Gene: IQSEC2
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: IQSEC2
Disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Association type: UNKNOWN
Gene: IQSEC2
Disease: Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome; IQSEC2-related syndromic intellectual disability (ORPHA:397933)
Association type: UNKNOWN
Gene: GNS
Disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Association type: MENDELIAN
Gene: GNS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GNS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GNS
Disease: Sanfilippo syndrome type D; GNS deficiency; Glucosamine N-acetyl-6-sulfatase deficiency; MPS3D; MPSIIID; Mucopolysaccharidosis type 3D; Mucopolysaccharidosis type IIID (ORPHA:79272)
Association type: UNKNOWN
Gene: PQBP1
Disease: RENPENNING SYNDROME 1 (OMIM:309500)
Association type: MENDELIAN
Gene: PQBP1
Disease: X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
Association type: UNKNOWN
Gene: PQBP1
Disease: X-linked intellectual disability, Porteous type (ORPHA:93945)
Association type: UNKNOWN
Gene: PQBP1
Disease: Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
Association type: UNKNOWN
Gene: PQBP1
Disease: X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
Association type: UNKNOWN
Gene: PLEC
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY (OMIM:226670)
Association type: MENDELIAN
Gene: PLEC
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
Association type: MENDELIAN
Gene: PLEC
Disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Association type: MENDELIAN
Gene: PLEC
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE (OMIM:131950)
Association type: MENDELIAN
Gene: PLEC
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (OMIM:612138)
Association type: MENDELIAN
Gene: PLEC
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 (OMIM:613723)
Association type: MENDELIAN
Gene: PLEC
Disease: PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement; PLEC-related intermediate EBS without extracutaneous involvement (ORPHA:79401)
Association type: UNKNOWN
Gene: PLEC
Disease: Epidermolysis bullosa simplex with muscular dystrophy; EBS with muscular dystrophy; EBS-MD; Limb-girdle muscular dystrophy with epidermolysis bullosa simplex (ORPHA:257)
Association type: UNKNOWN
Gene: PLEC
Disease: Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia; EBS-PA (ORPHA:158684)
Association type: UNKNOWN
Gene: PLEC
Disease: Plectin-related limb-girdle muscular dystrophy R17; Autosomal recessive limb-girdle muscular dystrophy type 2Q; LGMD type 2Q; LGMD2Q; Limb-girdle muscular dystrophy type 2Q; Plectin-related LGMD R17 (ORPHA:254361)
Association type: UNKNOWN
Gene: PLEC
Disease: Aplasia cutis congenita (ORPHA:1114)
Association type: UNKNOWN
Gene: FUS
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:608030)
Association type: MENDELIAN
Gene: FUS
Disease: TREMOR, HEREDITARY ESSENTIAL, 4 (OMIM:614782)
Association type: MENDELIAN
Gene: FUS
Disease: Myxoid/round cell liposarcoma; MRCLS (ORPHA:99967)
Association type: UNKNOWN
Gene: FUS
Disease: Frontotemporal dementia with motor neuron disease; FTD-ALS; FTD-MND; Frontotemporal dementia with amyotrophic lateral sclerosis (ORPHA:275872)
Association type: UNKNOWN
Gene: FUS
Disease: Juvenile amyotrophic lateral sclerosis; JALS; Juvenile Charcot disease; Juvenile Lou Gehrig disease (ORPHA:300605)
Association type: UNKNOWN
Gene: FUS
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: FUS
Disease: Myxofibrosarcoma; Fibromyxosarcoma; Myxoid malignant fibrous histiocytoma (ORPHA:79105)
Association type: UNKNOWN
Gene: APOE
Disease: LIPOPROTEIN GLOMERULOPATHY (OMIM:611771)
Association type: MENDELIAN
Gene: APOE
Disease: SEA-BLUE HISTIOCYTE DISEASE (OMIM:269600)
Association type: MENDELIAN
Gene: APOE
Disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Association type: POLYGENIC
Gene: APOE
Disease: ALZHEIMER DISEASE 4 (OMIM:606889)
Association type: MENDELIAN
Gene: APOE
Disease: ALZHEIMER DISEASE 2 (OMIM:104310)
Association type: MENDELIAN
Gene: APOE
Disease: HYPERLIPOPROTEINEMIA, TYPE III (OMIM:617347)
Association type: MENDELIAN
Gene: APOE
Disease: ALZHEIMER DISEASE 3 (OMIM:607822)
Association type: POLYGENIC
Gene: APOE
Disease: Lipoprotein glomerulopathy; LPG (ORPHA:329481)
Association type: UNKNOWN
Gene: APOE
Disease: Dysbetalipoproteinemia; Broad-beta disease; Familial dyslipidemia type 3; HLP type 3; Hyperlipidemia type 3; Hyperlipoproteinemia type 3; Remnant hyperlipoproteinemia (ORPHA:412)
Association type: UNKNOWN
Gene: NANS
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Association type: MENDELIAN
Gene: NANS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NANS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NANS
Disease: Spondyloepimetaphyseal dysplasia, Geneviève type; SEMD, Geneviève type; SEMDG (ORPHA:168454)
Association type: UNKNOWN
Gene: COL4A1
Disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Association type: MENDELIAN
Gene: COL4A1
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO (OMIM:614519)
Association type: POLYGENIC
Gene: COL4A1
Disease: RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000)
Association type: MENDELIAN
Gene: COL4A1
Disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Association type: MENDELIAN
Gene: COL4A1
Disease: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT (OMIM:618564)
Association type: MENDELIAN
Gene: COL4A1
Disease: Familial porencephaly (ORPHA:99810)
Association type: UNKNOWN
Gene: COL4A1
Disease: HANAC syndrome; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome (ORPHA:73229)
Association type: UNKNOWN
Gene: COL4A1
Disease: COL4A1/2-related familial vascular leukoencephalopathy; COL4A-related brain small vessel disease with hemorrhage; COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome (ORPHA:36383)
Association type: UNKNOWN
Gene: COL4A1
Disease: Familial schizencephaly (ORPHA:481986)
Association type: UNKNOWN
Gene: COL4A1
Disease: Familial isolated retinal arteriolar tortuosity; Familial retinal arteriolar tortuosity; Retinal arteriolar tortuosity; Retinal hemorrhage with vascular tortuosity; Tortuosity of retinal arteries (ORPHA:75326)
Association type: UNKNOWN
Gene: COL4A1
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: COL4A1
Disease: Pontine autosomal dominant microangiopathy with leukoencephalopathy; PADMAL (ORPHA:477749)
Association type: UNKNOWN
Gene: KANSL1
Disease: KOOLEN-DE VRIES SYNDROME (OMIM:610443)
Association type: MENDELIAN
Gene: KANSL1
Disease: 17q21.31 microdeletion syndrome; Del(17)(q21.31); Monosomy 17q21.31 (ORPHA:363958)
Association type: UNKNOWN
Gene: KANSL1
Disease: Koolen-De Vries syndrome due to a point mutation (ORPHA:363965)
Association type: UNKNOWN
Gene: GNAT1
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3 (OMIM:610444)
Association type: MENDELIAN
Gene: GNAT1
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G (OMIM:616389)
Association type: MENDELIAN
Gene: GNAT1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GNAT1
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: RHO
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 (OMIM:610445)
Association type: MENDELIAN
Gene: RHO
Disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Association type: MENDELIAN
Gene: RHO
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RHO
Disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Association type: MENDELIAN
Gene: RHO
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: RHO
Disease: Retinitis punctata albescens; RPA (ORPHA:52427)
Association type: UNKNOWN
Gene: RHO
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: SLC11A1
Disease: BURULI ULCER, SUSCEPTIBILITY TO (OMIM:610446)
Association type: POLYGENIC
Gene: SLC11A1
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: SLC11A1
Disease: Tuberculosis (ORPHA:3389)
Association type: UNKNOWN
Gene: SLC11A1
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: NYX
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
Association type: MENDELIAN
Gene: NYX
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NYX
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: HGSNAT
Disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Association type: MENDELIAN
Gene: HGSNAT
Disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Association type: MENDELIAN
Gene: HGSNAT
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: HGSNAT
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HGSNAT
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HGSNAT
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: HGSNAT
Disease: Sanfilippo syndrome type C; HGSNAT deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; MPS3C; MPSIIIC; Mucopolysaccharidosis type 3C; Mucopolysaccharidosis type IIIC (ORPHA:79271)
Association type: UNKNOWN
Gene: GPD1L
Disease: BRUGADA SYNDROME 2 (OMIM:611777)
Association type: MENDELIAN
Gene: GPD1L
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: TREX1
Disease: CHILBLAIN LUPUS 1 (OMIM:610448)
Association type: MENDELIAN
Gene: TREX1
Disease: AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
Association type: MENDELIAN
Gene: TREX1
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Association type: POLYGENIC
Gene: TREX1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TREX1
Disease: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS (OMIM:192315)
Association type: MENDELIAN
Gene: TREX1
Disease: Aicardi-Goutières syndrome; Encephalopathy with basal ganglia calcification; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid (ORPHA:51)
Association type: UNKNOWN
Gene: TREX1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: TREX1
Disease: Familial Chilblain lupus (ORPHA:481662)
Association type: UNKNOWN
Gene: TREX1
Disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; RVCL; RVCL-S; Retinal vasculopathy and cerebral leukoencephalopathy (ORPHA:247691)
Association type: UNKNOWN
Gene: WNT5A
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Association type: MENDELIAN
Gene: WNT5A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: WNT5A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WNT5A
Disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Association type: UNKNOWN
Gene: DVL1
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Association type: MENDELIAN
Gene: DVL1
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Association type: MENDELIAN
Gene: DVL1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DVL1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DVL1
Disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Association type: UNKNOWN
Gene: RANBP2
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Association type: POLYGENIC
Gene: RANBP2
Disease: Acute necrotizing encephalopathy of childhood; ANEC; Isolated ANE; Isolated acute necrotizing encephalopathy (ORPHA:263524)
Association type: UNKNOWN
Gene: RANBP2
Disease: Inflammatory myofibroblastic tumor (ORPHA:178342)
Association type: UNKNOWN
Gene: RANBP2
Disease: Familial acute necrotizing encephalopathy; ADANE; Recurrent acute necrotizing encephalopathy (ORPHA:88619)
Association type: UNKNOWN
Gene: EPAS1
Disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Association type: MENDELIAN
Gene: EPAS1
Disease: Multiple paragangliomas associated with polycythemia; Multiple paragangliomas associated with erythrocytosis; Paraganglioma-somatostatinoma-polycythemia syndrome (ORPHA:324299)
Association type: UNKNOWN
Gene: EPAS1
Disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Association type: UNKNOWN
Gene: EPAS1
Disease: Autosomal dominant secondary polycythemia; Autosomal dominant secondary erythrocytosis (ORPHA:247511)
Association type: UNKNOWN
Gene: APOA4
Disease:  (OMIM:621106)
Association type: MENDELIAN
Gene: SAMD9
Disease: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL (OMIM:610455)
Association type: MENDELIAN
Gene: SAMD9
Disease: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2 (OMIM:619041)
Association type: MENDELIAN
Gene: SAMD9
Disease: MIRAGE SYNDROME (OMIM:617053)
Association type: MENDELIAN
Gene: SAMD9
Disease: MIRAGE syndrome; Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome; Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome (ORPHA:494433)
Association type: UNKNOWN
Gene: SAMD9
Disease: Familial normophosphatemic tumoral calcinosis (ORPHA:306658)
Association type: UNKNOWN
Gene: ARX
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Association type: MENDELIAN
Gene: ARX
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Association type: MENDELIAN
Gene: ARX
Disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Association type: MENDELIAN
Gene: ARX
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Association type: MENDELIAN
Gene: ARX
Disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Association type: MENDELIAN
Gene: ARX
Disease: X-linked spasticity-intellectual disability-epilepsy syndrome (ORPHA:3175)
Association type: UNKNOWN
Gene: ARX
Disease: Corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; Proud syndrome; Proud-Levine-Carpenter syndrome (ORPHA:2508)
Association type: UNKNOWN
Gene: ARX
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: ARX
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: ARX
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: ARX
Disease: Infantile epileptic-dyskinetic encephalopathy (ORPHA:364063)
Association type: UNKNOWN
Gene: ARX
Disease: Partington syndrome; Partington-Mulley syndrome; X-linked intellectual disability-dystonia-dysarthria syndrome (ORPHA:94083)
Association type: UNKNOWN
Gene: ARX
Disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly with ambiguous genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Association type: UNKNOWN
Gene: PCLO
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 (OMIM:608027)
Association type: MENDELIAN
Gene: PCLO
Disease: Pontocerebellar hypoplasia type 3; Cerebellar atrophy with progressive microcephaly; PCH3 (ORPHA:97249)
Association type: UNKNOWN
Gene: CPS1
Disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Association type: MENDELIAN
Gene: CPS1
Disease: PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO (OMIM:615371)
Association type: POLYGENIC
Gene: CPS1
Disease: Carbamoyl-phosphate synthetase 1 deficiency; CPS1 deficiency; CPS1D; Carbamoyl-phosphate synthetase I deficiency; Carbamoyl-phosphate synthetase deficiency (ORPHA:147)
Association type: UNKNOWN
Gene: ACTA2
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 6 (OMIM:611788)
Association type: MENDELIAN
Gene: ACTA2
Disease: MOYAMOYA DISEASE 5 (OMIM:614042)
Association type: MENDELIAN
Gene: ACTA2
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (OMIM:613834)
Association type: MENDELIAN
Gene: ACTA2
Disease: Moyamoya disease; Idiopathic Moyamoya disease (ORPHA:2573)
Association type: UNKNOWN
Gene: ACTA2
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: ACTA2
Disease: Multisystemic smooth muscle dysfunction syndrome (ORPHA:404463)
Association type: UNKNOWN
Gene: NAGLU
Disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIB (OMIM:252920)
Association type: MENDELIAN
Gene: NAGLU
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V (OMIM:616491)
Association type: MENDELIAN
Gene: NAGLU
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NAGLU
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NAGLU
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2V; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation; CMT2V; Hereditary adult-onset painful axonal polyneuropathy (ORPHA:447964)
Association type: UNKNOWN
Gene: NAGLU
Disease: Sanfilippo syndrome type B; MPS3B; MPSIIIB; Mucopolysaccharidosis type 3B; Mucopolysaccharidosis type IIIB; N-acetyl-alpha-glucosaminidase deficiency (ORPHA:79270)
Association type: UNKNOWN
Gene: EEFSEC
Disease:  (OMIM:621102)
Association type: MENDELIAN
Gene: DAP3
Disease:  (OMIM:621101)
Association type: MENDELIAN
Gene: KICS2
Disease:  (OMIM:621100)
Association type: MENDELIAN
Gene: KRT5
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA (OMIM:609352)
Association type: MENDELIAN
Gene: KRT5
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Association type: MENDELIAN
Gene: KRT5
Disease: DOWLING-DEGOS DISEASE 1 (OMIM:179850)
Association type: MENDELIAN
Gene: KRT5
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION (OMIM:131960)
Association type: MENDELIAN
Gene: KRT5
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE (OMIM:619555)
Association type: MENDELIAN
Gene: KRT5
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE (OMIM:619588)
Association type: MENDELIAN
Gene: KRT5
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE (OMIM:619599)
Association type: MENDELIAN
Gene: KRT5
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED (OMIM:619594)
Association type: MENDELIAN
Gene: KRT5
Disease: Localized epidermolysis bullosa simplex; EBS-loc; Epidermolysis bullosa simplex of palms and soles; Epidermolysis bullosa simplex, Weber-Cockayne type; Localized EBS (ORPHA:79400)
Association type: UNKNOWN
Gene: KRT5
Disease: Autosomal dominant generalized epidermolysis bullosa simplex, severe form; Autosomal dominant generalized EBS, severe form; Epidermolysis bullosa simplex herpetiformis; Epidermolysis bullosa simplex, Dowling-Meara type (ORPHA:79396)
Association type: UNKNOWN
Gene: KRT5
Disease: Epidermolysis bullosa simplex with mottled pigmentation; EBS with mottled pigmentation; EBS-MP (ORPHA:79397)
Association type: UNKNOWN
Gene: KRT5
Disease: Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form; Autosomal dominant generalized EBS, intermediate form; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex, Köbner type (ORPHA:79399)
Association type: UNKNOWN
Gene: KRT5
Disease: Epidermolysis bullosa simplex with circinate migratory erythema; EBS with circinate migratory erythema; EBS-migr (ORPHA:158681)
Association type: UNKNOWN
Gene: KRT5
Disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Association type: UNKNOWN
Gene: BMPER
Disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Association type: MENDELIAN
Gene: BMPER
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BMPER
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BMPER
Disease: Diaphanospondylodysostosis; DSD (ORPHA:66637)
Association type: UNKNOWN
Gene: CACNA1A
Disease: SPINOCEREBELLAR ATAXIA 6 (OMIM:183086)
Association type: MENDELIAN
Gene: CACNA1A
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (OMIM:141500)
Association type: MENDELIAN
Gene: CACNA1A
Disease: EPISODIC ATAXIA, TYPE 2 (OMIM:108500)
Association type: MENDELIAN
Gene: CACNA1A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42 (OMIM:617106)
Association type: MENDELIAN
Gene: CACNA1A
Disease: Familial paroxysmal ataxia; Episodic ataxia type 2 (ORPHA:97)
Association type: UNKNOWN
Gene: CACNA1A
Disease: Benign paroxysmal torticollis of infancy (ORPHA:71518)
Association type: UNKNOWN
Gene: CACNA1A
Disease: Spinocerebellar ataxia type 6; SCA6 (ORPHA:98758)
Association type: UNKNOWN
Gene: CACNA1A
Disease: Lennox-Gastaut syndrome (ORPHA:2382)
Association type: UNKNOWN
Gene: CACNA1A
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: CACNA1A
Disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Association type: UNKNOWN
Gene: CACNA1A
Disease: Alternating hemiplegia of childhood; AHC (ORPHA:2131)
Association type: UNKNOWN
Gene: GCH1
Disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Association type: MENDELIAN
Gene: GCH1
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Association type: MENDELIAN
Gene: GCH1
Disease: Autosomal dominant dopa-responsive dystonia; Autosomal dominant Segawa syndrome; DYT5a; GTPCH1-deficient DRD; GTPCH1-deficient dopa-responsive dystonia; HPD with marked diurnal fluctuation; Hereditary progressive dystonia with marked diurnal fluctuation (ORPHA:98808)
Association type: UNKNOWN
Gene: GCH1
Disease: GTP cyclohydrolase I deficiency; GTPCH deficiency; Hyperphenylalaninemia due to GTP cyclohydrolase deficiency (ORPHA:2102)
Association type: UNKNOWN
Gene: KIFBP
Disease: GOLDBERG-SHPRINTZEN SYNDROME (OMIM:609460)
Association type: MENDELIAN
Gene: KIFBP
Disease: Goldberg-Shprintzen megacolon syndrome; GOSHS; Megacolon-microcephaly syndrome (ORPHA:66629)
Association type: UNKNOWN
Gene: FLAD1
Disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Association type: MENDELIAN
Gene: FLAD1
Disease: Multiple acyl-CoA dehydrogenase deficiency, mild type; Glutaric aciduria type 2, mild type; MAD deficiency, mild type; MADD, mild type (ORPHA:394532)
Association type: UNKNOWN
Gene: FLAD1
Disease: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type; Glutaric aciduria type 2, severe neonatal type; MAD deficiency, severe neonatal type; MADD, severe neonatal type (ORPHA:394529)
Association type: UNKNOWN
Gene: ROM1
Disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Association type: MENDELIAN
Gene: ROM1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ROM1
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: ROM1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PRPH2
Disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Association type: MENDELIAN