TaoMedAI/RareMedData huggingface dataset:
Gene: ACP5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ACP5
Disease: Spondyloenchondrodysplasia; SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes (ORPHA:1855)
Association type: UNKNOWN
Gene: CDC6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CDC6
Disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Association type: MENDELIAN
Gene: CDC6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CDC6
Disease: Ear-patella-short stature syndrome; Meier-Gorlin syndrome (ORPHA:2554)
Association type: UNKNOWN
Gene: NXN
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NXN
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NXN
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (OMIM:618529)
Association type: MENDELIAN
Gene: NXN
Disease: Autosomal recessive Robinow syndrome; COVESDEM syndrome; Costovertebral segmentation defect-mesomelia syndrome; RRS (ORPHA:1507)
Association type: UNKNOWN
Gene: CYP27B1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CYP27B1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CYP27B1
Disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Association type: MENDELIAN
Gene: CYP27B1
Disease: Hypocalcemic vitamin D-dependent rickets; 1-alpha-hydroxylase deficiency; PDDRI; Pseudovitamin D-deficient rickets; VDDI; VDDR-I; Vitamin D dependent rickets type I; Vitamin D-dependency type I (ORPHA:289157)
Association type: UNKNOWN
Gene: FGD1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FGD1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FGD1
Disease: AARSKOG-SCOTT SYNDROME (OMIM:305400)
Association type: MENDELIAN
Gene: FGD1
Disease: Aarskog-Scott syndrome; Aarskog syndrome; Faciodigitogenital syndrome; Faciogenital dysplasia (ORPHA:915)
Association type: UNKNOWN
Gene: SERPINC1
Disease: ANTITHROMBIN III DEFICIENCY (OMIM:613118)
Association type: MENDELIAN
Gene: SERPINC1
Disease: Hereditary thrombophilia due to congenital antithrombin deficiency; Hereditary thrombophilia due to congenital antithrombin 3 deficiency (ORPHA:82)
Association type: UNKNOWN
Gene: KCNE3
Disease: BRUGADA SYNDROME 6 (OMIM:613119)
Association type: MENDELIAN
Gene: KCNE3
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: KCNE3
Disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Association type: UNKNOWN
Gene: VAPB
Disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Association type: MENDELIAN
Gene: VAPB
Disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Association type: MENDELIAN
Gene: VAPB
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: VAPB
Disease: Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; Finkel disease; SMAFK (ORPHA:209335)
Association type: UNKNOWN
Gene: IGF2R
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: THRA
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Association type: MENDELIAN
Gene: THRA
Disease: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha; RTHa; Resistance to thyroid hormone alpha; Resistance to thyroid hormone due to a mutation in TRa (ORPHA:566231)
Association type: UNKNOWN
Gene: SCN3B
Disease: BRUGADA SYNDROME 7 (OMIM:613120)
Association type: MENDELIAN
Gene: SCN3B
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: SCN3B
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: KRT13
Disease: WHITE SPONGE NEVUS 2 (OMIM:615785)
Association type: MENDELIAN
Gene: KRT13
Disease: White sponge nevus; Hereditary mucosal leukokeratosis; White sponge nevus of Cannon (ORPHA:171723)
Association type: UNKNOWN
Gene: TPK1
Disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) (OMIM:614458)
Association type: MENDELIAN
Gene: TPK1
Disease: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (ORPHA:293955)
Association type: UNKNOWN
Gene: KCNMB1
Disease: HYPERTENSION, DIASTOLIC, RESISTANCE TO (OMIM:608622)
Association type: POLYGENIC
Gene: RAB39B
Disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Association type: MENDELIAN
Gene: RAB39B
Disease: WAISMAN SYNDROME (OMIM:311510)
Association type: MENDELIAN
Gene: RAB39B
Disease: CHROMOSOME Xq28 DUPLICATION SYNDROME (OMIM:300815)
Association type: MENDELIAN
Gene: RAB39B
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: RAB39B
Disease: Early-onset parkinsonism-intellectual disability syndrome; Laxova-Opitz syndrome; Waisman syndrome (ORPHA:2379)
Association type: UNKNOWN
Gene: LIAS
Disease: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462)
Association type: MENDELIAN
Gene: LIAS
Disease: Lipoic acid synthetase deficiency (ORPHA:401859)
Association type: UNKNOWN
Gene: MMP3
Disease: CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6 (OMIM:614466)
Association type: POLYGENIC
Gene: MOCS1
Disease: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A (OMIM:252150)
Association type: MENDELIAN
Gene: MOCS1
Disease: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A; Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A; MOCOD type A (ORPHA:308386)
Association type: UNKNOWN
Gene: TMEM138
Disease: JOUBERT SYNDROME 16 (OMIM:614465)
Association type: MENDELIAN
Gene: TMEM138
Disease: Joubert syndrome with oculorenal defect; Arima syndrome; CORS; Cerebellooculorenal syndrome; Dekaban-Arima syndrome; JS type B; JS-OR; Joubert syndrome with Senior-Loken syndrome (ORPHA:2318)
Association type: UNKNOWN
Gene: PLCG2
Disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 (OMIM:614468)
Association type: MENDELIAN
Gene: PLCG2
Disease: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION (OMIM:614878)
Association type: MENDELIAN
Gene: PLCG2
Disease: PLCG2-associated antibody deficiency and immune dysregulation; FACU; Familial atypical cold urticaria; Familial cold urticaria with common variable immunodeficiency; PLAID (ORPHA:300359)
Association type: UNKNOWN
Gene: PLCG2
Disease: Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation; APLAID (ORPHA:324530)
Association type: UNKNOWN
Gene: RPIA
Disease: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY (OMIM:608611)
Association type: MENDELIAN
Gene: RPIA
Disease: Ribose-5-P isomerase deficiency (ORPHA:440706)
Association type: UNKNOWN
Gene: XPA
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A (OMIM:278700)
Association type: MENDELIAN
Gene: XPA
Disease: Xeroderma pigmentosum (ORPHA:910)
Association type: UNKNOWN
Gene: ACP2
Disease: ACID PHOSPHATASE DEFICIENCY (OMIM:200950)
Association type: MENDELIAN
Gene: IL10RA
Disease: INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE (OMIM:613148)
Association type: MENDELIAN
Gene: IL10RA
Disease: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; IL10-related early-onset IBD; IL10-related early-onset inflammatory bowel disease (ORPHA:238569)
Association type: UNKNOWN
Gene: FHL1
Disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Association type: MENDELIAN
Gene: FHL1
Disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Association type: MENDELIAN
Gene: FHL1
Disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Association type: MENDELIAN
Gene: FHL1
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Association type: MENDELIAN
Gene: FHL1
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Association type: MENDELIAN
Gene: FHL1
Disease: Reducing body myopathy (ORPHA:97239)
Association type: UNKNOWN
Gene: FHL1
Disease: X-linked myopathy with postural muscle atrophy; XMPMA (ORPHA:178461)
Association type: UNKNOWN
Gene: FHL1
Disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Association type: UNKNOWN
Gene: FHL1
Disease: X-linked scapuloperoneal muscular dystrophy; X-linked SPMD; X-linked scapuloperoneal syndrome (ORPHA:431272)
Association type: UNKNOWN
Gene: HINT1
Disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Association type: MENDELIAN
Gene: HINT1
Disease: Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM; Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia (ORPHA:324442)
Association type: UNKNOWN
Gene: ACY1
Disease: AMINOACYLASE 1 DEFICIENCY (OMIM:609924)
Association type: MENDELIAN
Gene: ACY1
Disease: Aminoacylase 1 deficiency; ACY1D; N-acyl-L-amino acid amidohydrolase deficiency; N-acyl-aliphatic-L-amino acid amidohydrolase deficiency (ORPHA:137754)
Association type: UNKNOWN
Gene: GPD1
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE (OMIM:614480)
Association type: MENDELIAN
Gene: GPD1
Disease: Transient infantile hypertriglyceridemia and hepatosteatosis; Transient infantile hypertriglyceridemia and fatty liver (ORPHA:300293)
Association type: UNKNOWN
Gene: TF
Disease: ATRANSFERRINEMIA (OMIM:209300)
Association type: MENDELIAN
Gene: TF
Disease: Congenital atransferrinemia; Congenital hypotransferrinemia (ORPHA:1195)
Association type: UNKNOWN
Gene: SLC33A1
Disease: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
Association type: MENDELIAN
Gene: SLC33A1
Disease: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT (OMIM:612539)
Association type: MENDELIAN
Gene: SLC33A1
Disease: Autosomal dominant spastic paraplegia type 42; SPG42 (ORPHA:171863)
Association type: UNKNOWN
Gene: SLC33A1
Disease: Congenital cataract-hearing loss-severe developmental delay syndrome; Congenital cataract-deafness-severe developmental delay syndrome; Huppke-Brendel syndrome; Lethal neurodegenerative disorder due to copper transport defect (ORPHA:300313)
Association type: UNKNOWN
Gene: XPNPEP3
Disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Association type: MENDELIAN
Gene: XPNPEP3
Disease: Late-onset nephronophthisis (ORPHA:93589)
Association type: UNKNOWN
Gene: XPC
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C (OMIM:278720)
Association type: MENDELIAN
Gene: XPC
Disease: Xeroderma pigmentosum (ORPHA:910)
Association type: UNKNOWN
Gene: PHF8
Disease: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300263)
Association type: MENDELIAN
Gene: PHF8
Disease: X-linked intellectual disability, Siderius type (ORPHA:85287)
Association type: UNKNOWN
Gene: FAM50A
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Association type: MENDELIAN
Gene: FAM50A
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: WNK4
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IIB (OMIM:614491)
Association type: MENDELIAN
Gene: WNK4
Disease: Pseudohypoaldosteronism type 2B; PHA2B (ORPHA:88939)
Association type: UNKNOWN
Gene: UPB1
Disease: BETA-UREIDOPROPIONASE DEFICIENCY (OMIM:613161)
Association type: MENDELIAN
Gene: UPB1
Disease: Beta-ureidopropionase deficiency; Beta-alanine synthase deficiency (ORPHA:65287)
Association type: UNKNOWN
Gene: ABCG2
Disease: BLOOD GROUP, JUNIOR SYSTEM (OMIM:614490)
Association type: MENDELIAN
Gene: ABCG2
Disease: URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 (OMIM:138900)
Association type: MENDELIAN
Gene: KLHL3
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IID (OMIM:614495)
Association type: MENDELIAN
Gene: KLHL3
Disease: Pseudohypoaldosteronism type 2D; PHA2D (ORPHA:300525)
Association type: UNKNOWN
Gene: ABAT
Disease: GABA-TRANSAMINASE DEFICIENCY (OMIM:613163)
Association type: MENDELIAN
Gene: ABAT
Disease: Gamma-aminobutyric acid transaminase deficiency; GABA transaminase deficiency (ORPHA:2066)
Association type: UNKNOWN
Gene: NT5C2
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
Association type: MENDELIAN
Gene: NT5C2
Disease: Autosomal recessive spastic paraplegia type 45; Autosomal recessive spastic paraplegia type 65; SPG45; SPG65 (ORPHA:320396)
Association type: UNKNOWN
Gene: WIPF1
Disease: WISKOTT-ALDRICH SYNDROME 2 (OMIM:614493)
Association type: MENDELIAN
Gene: WIPF1
Disease: Wiskott-Aldrich syndrome; Eczema-thrombocytopenia-immunodeficiency syndrome; WAS (ORPHA:906)
Association type: UNKNOWN
Gene: CRADD
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
Association type: MENDELIAN
Gene: CRADD
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: EPM2A
Disease: MYOCLONIC EPILEPSY OF LAFORA (OMIM:254780)
Association type: MENDELIAN
Gene: EPM2A
Disease: Lafora disease; EPM2; PME type 2; Progressive myoclonic epilepsy type 2; Progressive myoclonus epilepsy type 2 (ORPHA:501)
Association type: UNKNOWN
Gene: PRDX1
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE (OMIM:277400)
Association type: MENDELIAN
Gene: GAB1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 26 (OMIM:605428)
Association type: MENDELIAN
Gene: METTL13
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF (OMIM:605429)
Association type: POLYGENIC
Gene: TRAPPC4
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY (OMIM:618741)
Association type: MENDELIAN
Gene: TRAPPC4
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: CDK8
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES (OMIM:618748)
Association type: MENDELIAN
Gene: CDK8
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: RPS23
Disease: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY (OMIM:617412)
Association type: MENDELIAN
Gene: UGP2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Association type: MENDELIAN
Gene: TTC29
Disease: SPERMATOGENIC FAILURE 42 (OMIM:618745)
Association type: MENDELIAN
Gene: TTC29
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: SPEF2
Disease: SPERMATOGENIC FAILURE 43 (OMIM:618751)
Association type: MENDELIAN
Gene: SPEF2
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: SPEF2
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: TMPRSS15
Disease: ENTEROKINASE DEFICIENCY (OMIM:226200)
Association type: MENDELIAN
Gene: TMPRSS15
Disease: Congenital enteropathy due to enteropeptidase deficiency; Congenital enterokinase deficiency (ORPHA:168601)
Association type: UNKNOWN
Gene: TH
Disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Association type: MENDELIAN
Gene: TH
Disease: Autosomal recessive dopa-responsive dystonia; Autosomal recessive Segawa syndrome; DYT5b; Tyrosine hydroxylase deficiency; Tyrosine hydroxylase-deficient dopa-responsive dystonia (ORPHA:101150)
Association type: UNKNOWN
Gene: RIC1
Disease: CATIFA SYNDROME (OMIM:618761)
Association type: MENDELIAN
Gene: RIC1
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: FAM149B1
Disease: JOUBERT SYNDROME 36 (OMIM:618763)
Association type: MENDELIAN
Gene: FAM149B1
Disease: Orofaciodigital syndrome type 6; Joubert syndrome with oral-facial-digital syndrome; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi syndrome; Váradi-Papp syndrome (ORPHA:2754)
Association type: UNKNOWN
Gene: TAF13
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
Association type: MENDELIAN
Gene: TAF13
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: VAMP2
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Association type: MENDELIAN
Gene: AP1S3
Disease: PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO (OMIM:616106)
Association type: POLYGENIC
Gene: AP1S3
Disease: Generalized pustular psoriasis; GPP (ORPHA:247353)
Association type: UNKNOWN
Gene: AP1S3
Disease: Pustulosis palmaris et plantaris; LPP; Localized pustular psoriasis; PPP; Palmoplantar pustulosis (ORPHA:163927)
Association type: UNKNOWN
Gene: AP1S3
Disease: Acrodermatitis continua of Hallopeau (ORPHA:163931)
Association type: UNKNOWN
Gene: CXCR4
Disease: WHIM SYNDROME (OMIM:193670)
Association type: MENDELIAN
Gene: CXCR4
Disease: WHIM syndrome; WILM; Warts-hypogammaglobulinemia-infections-myelokathexis syndrome; Warts-infections-leukopenia-myelokatexis syndrome (ORPHA:51636)
Association type: UNKNOWN
Gene: SCYL2
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM (OMIM:618766)
Association type: MENDELIAN
Gene: SCYL2
Disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Association type: UNKNOWN
Gene: KRT3
Disease: CORNEAL DYSTROPHY, MEESMANN, 2 (OMIM:618767)
Association type: MENDELIAN
Gene: KRT3
Disease: Meesmann corneal dystrophy; Juvenile hereditary epithelial dystrophy of Meesmann; MECD (ORPHA:98954)
Association type: UNKNOWN
Gene: SELENOI
Disease: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE (OMIM:618768)
Association type: MENDELIAN
Gene: SELENOI
Disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; Autosomal recessive complex SPG due to Kennedy pathway dysfunction; Autosomal recessive spastic paraplegia type 81 (ORPHA:506353)
Association type: UNKNOWN
Gene: ALDH4A1
Disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Association type: MENDELIAN
Gene: ALDH4A1
Disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Association type: UNKNOWN
Gene: CALCRL
Disease: LYMPHATIC MALFORMATION 8 (OMIM:618773)
Association type: MENDELIAN
Gene: CALCRL
Disease: Non-immune hydrops fetalis; NIHF; Non-immune HF; Non-immune fetal edema; Non-immune fetal hydrops (ORPHA:363999)
Association type: UNKNOWN
Gene: UQCRFS1
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618775)
Association type: MENDELIAN
Gene: UQCRFS1
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: FLI1
Disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Association type: MENDELIAN
Gene: FLI1
Disease: Skeletal Ewing sarcoma; Osseous Ewing sarcoma (ORPHA:319)
Association type: UNKNOWN
Gene: FLI1
Disease: Extraskeletal Ewing sarcoma; EOE; Extraosseous Ewing sarcoma; Extraosseous Ewing tumor; Extraskeletal Ewing tumor (ORPHA:370334)
Association type: UNKNOWN
Gene: FLI1
Disease: Peripheral primitive neuroectodermal tumor; PPNET; Peripheral PNET; Peripheral neuroepithelioma (ORPHA:370348)
Association type: UNKNOWN
Gene: FLI1
Disease: Paris-Trousseau thrombocytopenia (ORPHA:851)
Association type: UNKNOWN
Gene: FLI1
Disease: Isolated delta-storage pool disease; Isolated delta-SPD; Isolated dense-SPD; Isolated dense-storage pool disease (ORPHA:248340)
Association type: UNKNOWN
Gene: FLI1
Disease: Jacobsen syndrome; 11q terminal deletion syndrome; Chromosome 11q deletion syndrome; Del(11)(q23.3); Del(11)(qter); Distal deletion 11q; Distal monosomy 11q; Monosomy 11qter; Telomeric deletion 11q (ORPHA:2308)
Association type: UNKNOWN
Gene: PCYT2
Disease: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (OMIM:618770)
Association type: MENDELIAN
Gene: PCYT2
Disease: Autosomal recessive spastic paraplegia type 82 (ORPHA:631073)
Association type: UNKNOWN
Gene: MSH5
Disease: PREMATURE OVARIAN FAILURE 13 (OMIM:617442)
Association type: MENDELIAN
Gene: MSH5
Disease: SPERMATOGENIC FAILURE 74 (OMIM:619937)
Association type: MENDELIAN
Gene: MSH5
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: UQCC3
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Association type: MENDELIAN
Gene: UQCC3
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: MPIG6B
Disease: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS (OMIM:617441)
Association type: MENDELIAN
Gene: NDST1
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Association type: MENDELIAN
Gene: NDST1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: NLRC4
Disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 (OMIM:616115)
Association type: MENDELIAN
Gene: NLRC4
Disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Association type: MENDELIAN
Gene: NLRC4
Disease: NLRC4-related familial cold autoinflammatory syndrome; FCAS4; Familial cold autoinflammatory syndrome 4; NLRC4-related familial cold urticaria (ORPHA:576349)
Association type: UNKNOWN
Gene: NLRC4
Disease: Periodic fever-infantile enterocolitis-autoinflammatory syndrome; NLRC4-related MAS; NLRC4-related autoinflammatory syndrome with MAS; NLRC4-related autoinflammatory syndrome with macrophage activation syndrome; NLRC4-related infantile enterocolitis-autoinflammatory syndrome; NLRC4-related macrophage activation syndrome (ORPHA:436166)
Association type: UNKNOWN
Gene: NDUFAF8
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Association type: MENDELIAN
Gene: NDUFAF8
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: TRRAP
Disease: DEAFNESS, AUTOSOMAL DOMINANT 75 (OMIM:618778)
Association type: MENDELIAN
Gene: TRRAP
Disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Association type: MENDELIAN
Gene: TRRAP
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: SMARCD1
Disease: COFFIN-SIRIS SYNDROME 11 (OMIM:618779)
Association type: MENDELIAN
Gene: SMARCD1
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: GRHL3
Disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Association type: MENDELIAN
Gene: GRHL3
Disease: Cleft hard palate (ORPHA:101023)
Association type: UNKNOWN
Gene: GRHL3
Disease: Van der Woude syndrome; Cleft lip/palate with mucous cysts of lower lip; Lip-pit syndrome; VWS (ORPHA:888)
Association type: UNKNOWN
Gene: GRHL3
Disease: Submucosal cleft palate (ORPHA:155878)
Association type: UNKNOWN
Gene: GRHL3
Disease: Bifid uvula; Bifidity of the uvula; Uvular cleft (ORPHA:99771)
Association type: UNKNOWN