TaoMedAI/RareMedData huggingface dataset:
Gene: COQ4
Disease: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE (OMIM:620666)
Association type: MENDELIAN
Gene: COQ4
Disease: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; COQ4-related neonatal encephalomyopathy (ORPHA:457185)
Association type: UNKNOWN
Gene: UNC45B
Disease: CATARACT 43 (OMIM:616279)
Association type: MENDELIAN
Gene: UNC45B
Disease: MYOFIBRILLAR MYOPATHY 11 (OMIM:619178)
Association type: MENDELIAN
Gene: UNC45B
Disease: Early-onset posterior subcapsular cataract (ORPHA:441447)
Association type: UNKNOWN
Gene: UNC45B
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: EGLN1
Disease: HEMOGLOBIN, HIGH ALTITUDE ADAPTATION (OMIM:609070)
Association type: MENDELIAN
Gene: EGLN1
Disease: ERYTHROCYTOSIS, FAMILIAL, 3 (OMIM:609820)
Association type: MENDELIAN
Gene: EGLN1
Disease: Autosomal dominant secondary polycythemia; Autosomal dominant secondary erythrocytosis (ORPHA:247511)
Association type: UNKNOWN
Gene: GPT2
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY (OMIM:616281)
Association type: MENDELIAN
Gene: GPT2
Disease: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome (ORPHA:477673)
Association type: UNKNOWN
Gene: MARS1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Association type: MENDELIAN
Gene: MARS1
Disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Association type: MENDELIAN
Gene: MARS1
Disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Association type: MENDELIAN
Gene: MARS1
Disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Association type: MENDELIAN
Gene: MARS1
Disease: Autosomal recessive spastic paraplegia type 70; SPG70 (ORPHA:401835)
Association type: UNKNOWN
Gene: MARS1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2U; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation; CMT2U (ORPHA:397735)
Association type: UNKNOWN
Gene: MARS1
Disease: Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Hereditary pulmonary alveolar proteinosis with hepatic involvement; Interstitial lung and liver disease; PAP, Reunion island type; Pulmonary alveolar proteinosis, Reunion island type (ORPHA:440427)
Association type: UNKNOWN
Gene: MTTP
Disease: ABETALIPOPROTEINEMIA (OMIM:200100)
Association type: MENDELIAN
Gene: MTTP
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MTTP
Disease: Abetalipoproteinemia; Bassen-Kornzweig disease; Homozygous familial hypobetalipoproteinemia (ORPHA:14)
Association type: UNKNOWN
Gene: CPT1C
Disease: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
Association type: MENDELIAN
Gene: CPT1C
Disease: Autosomal dominant spastic paraplegia type 73; SPG73 (ORPHA:444099)
Association type: UNKNOWN
Gene: ITGB4
Disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Association type: MENDELIAN
Gene: ITGB4
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE (OMIM:619816)
Association type: MENDELIAN
Gene: ITGB4
Disease: Junctional epidermolysis bullosa with pyloric atresia; Carmi syndrome; JEB with pyloric atresia; JEB-PA (ORPHA:79403)
Association type: UNKNOWN
Gene: ITGB4
Disease: Intermediate generalized junctional epidermolysis bullosa; Generalized atrophic benign epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Intermediate generalized JEB; Junctional epidermolysis bullosa generalisata mitis; Junctional epidermolysis bullosa, Disentis type (ORPHA:79402)
Association type: UNKNOWN
Gene: ITGB4
Disease: Epidermolysis bullosa simplex with pyloric atresia; EBS with pyloric atresia; EBS-PA (ORPHA:158684)
Association type: UNKNOWN
Gene: ITGB4
Disease: Localized junctional epidermolysis bullosa; JEB-nH loc; Junctional epidermolysis bullosa, non-Herlitz localized type; Localized JEB (ORPHA:251393)
Association type: UNKNOWN
Gene: ITGB4
Disease: Aplasia cutis congenita (ORPHA:1114)
Association type: UNKNOWN
Gene: ITGA6
Disease: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA (OMIM:226730)
Association type: MENDELIAN
Gene: ITGA6
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA (OMIM:619817)
Association type: MENDELIAN
Gene: ITGA6
Disease: Junctional epidermolysis bullosa with pyloric atresia; Carmi syndrome; JEB with pyloric atresia; JEB-PA (ORPHA:79403)
Association type: UNKNOWN
Gene: ACO2
Disease: OPTIC ATROPHY 9 (OMIM:616289)
Association type: MENDELIAN
Gene: ACO2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ACO2
Disease: INFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)
Association type: MENDELIAN
Gene: ACO2
Disease: Autosomal recessive isolated optic atrophy; Autosomal recessive non-syndromic optic atrophy (ORPHA:98676)
Association type: UNKNOWN
Gene: ACO2
Disease: Infantile cerebellar-retinal degeneration (ORPHA:313850)
Association type: UNKNOWN
Gene: ADCY6
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 8 (OMIM:616287)
Association type: MENDELIAN
Gene: ADCY6
Disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Association type: UNKNOWN
Gene: CNTNAP1
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (OMIM:616286)
Association type: MENDELIAN
Gene: CNTNAP1
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 (OMIM:618186)
Association type: MENDELIAN
Gene: CNTNAP1
Disease: Hypomyelination neuropathy-arthrogryposis syndrome (ORPHA:2680)
Association type: UNKNOWN
Gene: GFM1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (OMIM:609060)
Association type: MENDELIAN
Gene: GFM1
Disease: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; Hepatoencephalopathy due to COXPD1 (ORPHA:137681)
Association type: UNKNOWN
Gene: VMA21
Disease: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY (OMIM:310440)
Association type: MENDELIAN
Gene: VMA21
Disease: X-linked myopathy with excessive autophagy; XMEA (ORPHA:25980)
Association type: UNKNOWN
Gene: PTF1A
Disease: PANCREATIC AND CEREBELLAR AGENESIS (OMIM:609069)
Association type: MENDELIAN
Gene: PTF1A
Disease: PANCREATIC AGENESIS 2 (OMIM:615935)
Association type: MENDELIAN
Gene: PTF1A
Disease: Partial pancreatic agenesis; Congenital pancreatic agenesis; Partial agenesis of the pancreas (ORPHA:2805)
Association type: UNKNOWN
Gene: PTF1A
Disease: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome; Pancreatic and cerebellar agenesis (ORPHA:65288)
Association type: UNKNOWN
Gene: SLC9A1
Disease: LICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
Association type: MENDELIAN
Gene: SLC9A1
Disease: Progressive autosomal recessive ataxia-deafness syndrome; Lichtenstein-Knorr syndrome; Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome; SCAR19 (ORPHA:448251)
Association type: UNKNOWN
Gene: CAST
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS (OMIM:616295)
Association type: MENDELIAN
Gene: CAST
Disease: Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome; PLACK syndrome (ORPHA:444138)
Association type: UNKNOWN
Gene: SEC24D
Disease: COLE-CARPENTER SYNDROME 2 (OMIM:616294)
Association type: MENDELIAN
Gene: SEC24D
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: SEC24D
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SEC24D
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SEC24D
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: SEC24D
Disease: Cole-Carpenter syndrome; Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome (ORPHA:2050)
Association type: UNKNOWN
Gene: SEC24D
Disease: Osteogenesis imperfecta type 1; Adair-Dighton syndrome; Mild osteogenesis imperfecta; Non-deforming osteogenesis imperfecta; OI type 1; Van der Hoeve syndrome (ORPHA:216796)
Association type: UNKNOWN
Gene: TWIST2
Disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Association type: MENDELIAN
Gene: TWIST2
Disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Association type: MENDELIAN
Gene: TWIST2
Disease: BARBER-SAY SYNDROME (OMIM:209885)
Association type: MENDELIAN
Gene: TWIST2
Disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Association type: UNKNOWN
Gene: TWIST2
Disease: Ablepharon macrostomia syndrome (ORPHA:920)
Association type: UNKNOWN
Gene: TWIST2
Disease: Focal facial dermal dysplasia type III; FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Setleis syndrome (ORPHA:1807)
Association type: UNKNOWN
Gene: LIPT1
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Association type: MENDELIAN
Gene: LIPT1
Disease: Lipoyl transferase 1 deficiency (ORPHA:401862)
Association type: UNKNOWN
Gene: RIGI
Disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Association type: MENDELIAN
Gene: RIGI
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RIGI
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RIGI
Disease: Singleton-Merten dysplasia; Singleton-Merten syndrome (ORPHA:85191)
Association type: UNKNOWN
Gene: FANCI
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I (OMIM:609053)
Association type: MENDELIAN
Gene: FANCI
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: BRIP1
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
Association type: MENDELIAN
Gene: BRIP1
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: BRIP1
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: BRIP1
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: ST3GAL5
Disease: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME (OMIM:609056)
Association type: MENDELIAN
Gene: ST3GAL5
Disease: GM3 synthase deficiency; ST3GAL5-CDG (ORPHA:370933)
Association type: UNKNOWN
Gene: ACADM
Disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Association type: MENDELIAN
Gene: ACADM
Disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency (ORPHA:42)
Association type: UNKNOWN
Gene: ROGDI
Disease: KOHLSCHUTTER-TONZ SYNDROME (OMIM:226750)
Association type: MENDELIAN
Gene: ROGDI
Disease: Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome; Kohlschütter-Tönz syndrome (ORPHA:1946)
Association type: UNKNOWN
Gene: PKP2
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (OMIM:609040)
Association type: MENDELIAN
Gene: PKP2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: PKP2
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: PKP2
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: PKP2
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN
Gene: PKP2
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: PKP2
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: CDK4
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
Association type: POLYGENIC
Gene: CDK4
Disease: Dedifferentiated liposarcoma; DDLS (ORPHA:99970)
Association type: UNKNOWN
Gene: CDK4
Disease: Well-differentiated liposarcoma; ALT; Atypical lipoma; Atypical lipomatous tumor; WDLS (ORPHA:99971)
Association type: UNKNOWN
Gene: CDK4
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: AASS
Disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Association type: MENDELIAN
Gene: AASS
Disease: Saccharopinuria; Hyperlysinemia type II; Saccharopine dehydrogenase deficiency (ORPHA:3124)
Association type: UNKNOWN
Gene: AASS
Disease: Hyperlysinemia; Hyperlysinemia type I; Lysine alpha-ketoglutarate reductase deficiency (ORPHA:2203)
Association type: UNKNOWN
Gene: STIL
Disease: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:612703)
Association type: MENDELIAN
Gene: STIL
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: STIL
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: STIL
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: STIL
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: STIL
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: STIL
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: STIL
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: LAMB2
Disease: PIERSON SYNDROME (OMIM:609049)
Association type: MENDELIAN
Gene: LAMB2
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Association type: MENDELIAN
Gene: LAMB2
Disease: Pierson syndrome; Microcoria-congenital nephrosis syndrome (ORPHA:2670)
Association type: UNKNOWN
Gene: LAMB2
Disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Association type: UNKNOWN
Gene: HLA-DQB1
Disease: CREUTZFELDT-JAKOB DISEASE (OMIM:123400)
Association type: POLYGENIC
Gene: HLA-DQB1
Disease: MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO (OMIM:126200)
Association type: POLYGENIC
Gene: HLA-DQB1
Disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Association type: POLYGENIC
Gene: HLA-DQB1
Disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Association type: UNKNOWN
Gene: HLA-DQB1
Disease: Idiopathic achalasia; Achalasia cardia; Idiopathic achalasia of esophagus; Primary achalasia (ORPHA:930)
Association type: UNKNOWN
Gene: HLA-DQB1
Disease: Bullous pemphigoid (ORPHA:703)
Association type: UNKNOWN
Gene: HLA-DQB1
Disease: Narcolepsy type 1; Gélineau disease; Hypocretin/orexin deficiency syndrome; Narcolepsy-cataplexy (ORPHA:2073)
Association type: UNKNOWN
Gene: HLA-DQB1
Disease: Pediatric multiple sclerosis (ORPHA:477738)
Association type: UNKNOWN
Gene: DSG1
Disease: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE (OMIM:148700)
Association type: MENDELIAN
Gene: DSG1
Disease: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE (OMIM:615508)
Association type: MENDELIAN
Gene: DSG1
Disease: Diffuse palmoplantar keratoderma with painful fissures (ORPHA:369999)
Association type: UNKNOWN
Gene: DSG1
Disease: Severe dermatitis-multiple allergies-metabolic wasting syndrome; Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome; SAM syndrome (ORPHA:369992)
Association type: UNKNOWN
Gene: DSG1
Disease: Striate palmoplantar keratoderma; Keratosis palmoplantaris striata; Keratosis palmoplantaris striata et areata; Keratosis palmoplantaris varians of Wachters (ORPHA:50942)
Association type: UNKNOWN
Gene: DSG1
Disease: Focal palmoplantar keratoderma with joint keratoses (ORPHA:370002)
Association type: UNKNOWN
Gene: ADAMTS2
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE (OMIM:225410)
Association type: MENDELIAN
Gene: ADAMTS2
Disease: Dermatosparaxis Ehlers-Danlos syndrome; Dermatosparaxis EDS; Ehlers-Danlos syndrome type 7C; Human dermatosparaxis EDS VIIC; dEDS (ORPHA:1901)
Association type: UNKNOWN
Gene: SRD5A3
Disease: KAHRIZI SYNDROME (OMIM:612713)
Association type: MENDELIAN
Gene: SRD5A3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SRD5A3
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Association type: MENDELIAN
Gene: SRD5A3
Disease: SRD5A3-CDG; CDG syndrome type Iq; CDG-Iq; CDG1Q; Congenital disorder of glycosylation type 1q; Congenital disorder of glycosylation type Iq (ORPHA:324737)
Association type: UNKNOWN
Gene: RDH12
Disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Association type: MENDELIAN
Gene: RDH12
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RDH12
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: RDH12
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: STS
Disease: ICHTHYOSIS, X-LINKED (OMIM:308100)
Association type: MENDELIAN
Gene: STS
Disease: Syndromic recessive X-linked ichthyosis; Recessive X-linked ichthyosis with extracutaneous manifestations; Syndromic RXLI (ORPHA:281090)
Association type: UNKNOWN
Gene: STS
Disease: Recessive X-linked ichthyosis; RXLI; Steroid sulfatase deficiency; X-linked ichthyosis; XLI (ORPHA:461)
Association type: UNKNOWN
Gene: COX4I2
Disease: EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS (OMIM:612714)
Association type: MENDELIAN
Gene: COX4I2
Disease: Pancreatic insufficiency-anemia-hyperostosis syndrome (ORPHA:199337)
Association type: UNKNOWN
Gene: SPR
Disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Association type: MENDELIAN
Gene: SPR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SPR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SPR
Disease: Dopa-responsive dystonia due to sepiapterin reductase deficiency; Autosomal recessive sepiapterin reductase-deficient DRD; DRD due to SRD; SPR deficiency; Sepiapterin reductase deficiency (ORPHA:70594)
Association type: UNKNOWN
Gene: GATM
Disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (OMIM:612718)
Association type: MENDELIAN
Gene: GATM
Disease: FANCONI RENOTUBULAR SYNDROME 1 (OMIM:134600)
Association type: MENDELIAN
Gene: GATM
Disease: Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome; Primary Fanconi renal syndrome (ORPHA:3337)
Association type: UNKNOWN
Gene: GATM
Disease: L-Arginine:glycine amidinotransferase deficiency; AGAT deficiency (ORPHA:35704)
Association type: UNKNOWN
Gene: FOXL2
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (OMIM:110100)
Association type: MENDELIAN
Gene: FOXL2
Disease: PREMATURE OVARIAN FAILURE 3 (OMIM:608996)
Association type: MENDELIAN
Gene: FOXL2
Disease: Malignant granulosa cell tumor of the ovary; Granulosa cell cancer; Granulosa cell malignant tumor (ORPHA:99915)
Association type: UNKNOWN
Gene: FOXL2
Disease: Blepharophimosis-ptosis-epicanthus inversus syndrome plus; 3q23 microdeletion syndrome; BPES plus (ORPHA:572333)
Association type: UNKNOWN
Gene: FOXL2
Disease: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2; BPES type 2; Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure (ORPHA:572361)
Association type: UNKNOWN
Gene: FOXL2
Disease: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1; BPES type 1; Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure (ORPHA:572354)
Association type: UNKNOWN
Gene: SCNN1B
Disease: LIDDLE SYNDROME 1 (OMIM:177200)
Association type: MENDELIAN
Gene: SCNN1B
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Association type: MENDELIAN
Gene: SCNN1B
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Association type: MENDELIAN
Gene: SCNN1B
Disease: Generalized pseudohypoaldosteronism type 1; Autosomal recessive PHA1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Association type: UNKNOWN
Gene: SCNN1B
Disease: Idiopathic bronchiectasis (ORPHA:60033)
Association type: UNKNOWN
Gene: SCNN1B
Disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Association type: UNKNOWN
Gene: ACADVL
Disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Association type: MENDELIAN
Gene: ACADVL
Disease: Very long chain acyl-CoA dehydrogenase deficiency; VLCAD deficiency; VLCADD (ORPHA:26793)
Association type: UNKNOWN
Gene: ACADS
Disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Association type: MENDELIAN
Gene: ACADS
Disease: Short chain acyl-CoA dehydrogenase deficiency; ACADS deficiency; SCAD deficiency; SCADD (ORPHA:26792)
Association type: UNKNOWN
Gene: EP300
Disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Association type: MENDELIAN
Gene: EP300
Disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Association type: MENDELIAN
Gene: EP300
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: EP300
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EP300
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EP300
Disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Association type: MENDELIAN
Gene: EP300
Disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Association type: UNKNOWN
Gene: CREBBP
Disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Association type: MENDELIAN
Gene: CREBBP
Disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Association type: MENDELIAN
Gene: CREBBP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CREBBP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CREBBP
Disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Association type: UNKNOWN
Gene: CREBBP
Disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Association type: UNKNOWN
Gene: CREBBP
Disease: Menke-Hennekam syndrome (ORPHA:592574)
Association type: UNKNOWN
Gene: CREBBP
Disease: Acute myeloid leukemia with t(8;16)(p11;p13) translocation; AML with t(8;16)(p11;p13) translocation (ORPHA:370026)
Association type: UNKNOWN
Gene: SLC25A20
Disease: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (OMIM:212138)
Association type: MENDELIAN
Gene: SLC25A20
Disease: Carnitine-acylcarnitine translocase deficiency; CACT deficiency (ORPHA:159)
Association type: UNKNOWN
Gene: ATP7A
Disease: MENKES DISEASE (OMIM:309400)
Association type: MENDELIAN
Gene: ATP7A
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 (OMIM:300489)
Association type: MENDELIAN
Gene: ATP7A
Disease: OCCIPITAL HORN SYNDROME (OMIM:304150)
Association type: MENDELIAN
Gene: ATP7A
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: ATP7A
Disease: X-linked distal spinal muscular atrophy type 3; ATP7A-related distal motor neuropathy; DSMAX; SMAX3; X-linked dHMN3; X-linked dSMA3; X-linked distal hereditary motor neuropathy type 3 (ORPHA:139557)
Association type: UNKNOWN
Gene: ATP7A
Disease: Occipital horn syndrome (ORPHA:198)
Association type: UNKNOWN
Gene: ATP7A
Disease: Menkes disease; MD; Menkes kinky hair disease; Menkes syndrome (ORPHA:565)
Association type: UNKNOWN
Gene: CWC27
Disease: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES (OMIM:250410)
Association type: MENDELIAN
Gene: CWC27
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CWC27
Disease: Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
Association type: UNKNOWN
Gene: CD44
Disease: BLOOD GROUP, INDIAN SYSTEM (OMIM:609027)
Association type: MENDELIAN