TaoMedAI/RareMedData huggingface dataset:
Gene: ATRX
Disease: Neuroendocrine tumor of stomach; GNET; Gastric NET; Gastric neuroendocrine tumor; NET of stomach (ORPHA:100075)
Association type: UNKNOWN
Gene: ATRX
Disease: Alpha-thalassemia-myelodysplastic syndrome; ATMDS; Acquired HbH disease; Acquired hemoglobin H disease (ORPHA:231401)
Association type: UNKNOWN
Gene: SMS
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE (OMIM:309583)
Association type: MENDELIAN
Gene: SMS
Disease: X-linked intellectual disability, Snyder type; Snyder-Robinson syndrome (ORPHA:3063)
Association type: UNKNOWN
Gene: CPT1A
Disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Association type: MENDELIAN
Gene: CPT1A
Disease: Carnitine palmitoyl transferase 1A deficiency; CPT1A deficiency; Carnitine palmitoyl transferase IA deficiency; Hepatic carnitine palmitoyl transferase 1 deficiency; Hepatic carnitine palmitoyl transferase I deficiency; L-CPT1 deficiency; L-CPTI deficiency (ORPHA:156)
Association type: UNKNOWN
Gene: LAS1L
Disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Association type: MENDELIAN
Gene: LAS1L
Disease: Spinal muscular atrophy with respiratory distress type 2; Diaphragmatic spinal muscular atrophy type 2; SMARD2; Severe infantile axonal neuropathy with respiratory failure type 2; X-linked spinal muscular atrophy with respiratory distress (ORPHA:404521)
Association type: UNKNOWN
Gene: LAS1L
Disease: Wilson-Turner syndrome; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome (ORPHA:3459)
Association type: UNKNOWN
Gene: NUP210L
Disease:  (OMIM:621057)
Association type: MENDELIAN
Gene: LRRC8C
Disease:  (OMIM:621056)
Association type: MENDELIAN
Gene: ISCU
Disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Association type: MENDELIAN
Gene: ISCU
Disease: Hereditary myopathy with lactic acidosis due to ISCU deficiency; Aconitase deficiency; ISCU myopathy; Iron-sulfur cluster deficiency myopathy; Myopathy with exercise intolerance, Swedish type (ORPHA:43115)
Association type: UNKNOWN
Gene: HYAL2
Disease:  (OMIM:621063)
Association type: MENDELIAN
Gene: HYAL2
Disease: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome; Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome; Hyaluronidase 2 deficiency (ORPHA:508476)
Association type: UNKNOWN
Gene: FLVCR1
Disease:  (OMIM:621060)
Association type: MENDELIAN
Gene: FLVCR1
Disease: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA (OMIM:609033)
Association type: MENDELIAN
Gene: FLVCR1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: FLVCR1
Disease: Posterior column ataxia-retinitis pigmentosa syndrome; Autosomal recessive posterior column ataxia and retinitis pigmentosa; PCARP (ORPHA:88628)
Association type: UNKNOWN
Gene: WNK1
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Association type: MENDELIAN
Gene: WNK1
Disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Association type: MENDELIAN
Gene: WNK1
Disease: Hereditary sensory and autonomic neuropathy type 2; Autosomal recessive sensory radicular neuropathy; HSAN2; Hereditary sensory and autonomic neuropathy type II; Neurogenic acroosteolysis (ORPHA:970)
Association type: UNKNOWN
Gene: WNK1
Disease: Pseudohypoaldosteronism type 2C; PHA2C (ORPHA:88940)
Association type: UNKNOWN
Gene: RETREG1
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Association type: MENDELIAN
Gene: RETREG1
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB (OMIM:613115)
Association type: MENDELIAN
Gene: RETREG1
Disease: Hereditary sensory and autonomic neuropathy type 2; Autosomal recessive sensory radicular neuropathy; HSAN2; Hereditary sensory and autonomic neuropathy type II; Neurogenic acroosteolysis (ORPHA:970)
Association type: UNKNOWN
Gene: SCN9A
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Association type: MENDELIAN
Gene: SCN9A
Disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Association type: MENDELIAN
Gene: SCN9A
Disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Association type: MENDELIAN
Gene: SCN9A
Disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Association type: MENDELIAN
Gene: SCN9A
Disease: Hereditary sodium channelopathy-related small fibers neuropathy (ORPHA:306577)
Association type: UNKNOWN
Gene: SCN9A
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: SCN9A
Disease: Congenital insensitivity to pain-anosmia-neuropathic arthropathy; SCN9A-related congenital insensitivity to pain (ORPHA:88642)
Association type: UNKNOWN
Gene: SCN9A
Disease: Hereditary sensory and autonomic neuropathy type 2; Autosomal recessive sensory radicular neuropathy; HSAN2; Hereditary sensory and autonomic neuropathy type II; Neurogenic acroosteolysis (ORPHA:970)
Association type: UNKNOWN
Gene: SCN9A
Disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Association type: UNKNOWN
Gene: SCN9A
Disease: Paroxysmal extreme pain disorder; Familial rectal pain (ORPHA:46348)
Association type: UNKNOWN
Gene: SCN9A
Disease: Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy; Severe myoclonus epilepsy of infancy (ORPHA:33069)
Association type: UNKNOWN
Gene: COPB2
Disease: MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617800)
Association type: MENDELIAN
Gene: COPB2
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: COPB2
Disease: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY (OMIM:619884)
Association type: MENDELIAN
Gene: COPB2
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: COPB2
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: CPT2
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Association type: MENDELIAN
Gene: CPT2
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 (OMIM:614212)
Association type: POLYGENIC
Gene: CPT2
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Association type: MENDELIAN
Gene: CPT2
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Association type: MENDELIAN
Gene: CPT2
Disease: Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, adult-onset form; CPT2, myopathic form; CPTII, adult-onset form; CPTII, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, myopathic form (ORPHA:228302)
Association type: UNKNOWN
Gene: CPT2
Disease: Carnitine palmitoyl transferase II deficiency, severe infantile form; CPT2, hepatocardiomuscular form; CPT2, severe infantile form; CPTII, hepatocardiomuscular form; CPTII, severe infantile form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form (ORPHA:228305)
Association type: UNKNOWN
Gene: CPT2
Disease: Carnitine palmitoyl transferase II deficiency, neonatal form; CPT2, lethal systemic form; CPT2, neonatal form; CPTII, lethal systemic form; CPTII, neonatal form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Association type: UNKNOWN
Gene: CPT2
Disease: Acute necrotizing encephalopathy of childhood; ANEC; Isolated ANE; Isolated acute necrotizing encephalopathy (ORPHA:263524)
Association type: UNKNOWN
Gene: DHX30
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE (OMIM:617804)
Association type: MENDELIAN
Gene: DHX30
Disease: Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome; DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome; DHX30-related neurodevelopmental disorder (ORPHA:647788)
Association type: UNKNOWN
Gene: VARS1
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Association type: MENDELIAN
Gene: ARID2
Disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Association type: MENDELIAN
Gene: ARID2
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: RAB11B
Disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER (OMIM:617807)
Association type: MENDELIAN
Gene: SEL1L
Disease:  (OMIM:621068)
Association type: MENDELIAN
Gene: SEL1L
Disease:  (OMIM:621067)
Association type: MENDELIAN
Gene: GREB1L
Disease: RENAL HYPODYSPLASIA/APLASIA 3 (OMIM:617805)
Association type: MENDELIAN
Gene: GREB1L
Disease: DEAFNESS, AUTOSOMAL DOMINANT 80 (OMIM:619274)
Association type: MENDELIAN
Gene: GREB1L
Disease: Renal agenesis, unilateral (ORPHA:93100)
Association type: UNKNOWN
Gene: GREB1L
Disease: Renal agenesis, bilateral (ORPHA:1848)
Association type: UNKNOWN
Gene: MGA
Disease:  (OMIM:621065)
Association type: MENDELIAN
Gene: USP25
Disease:  (OMIM:621064)
Association type: POLYGENIC
Gene: LTBP3
Disease: GELEOPHYSIC DYSPLASIA 3 (OMIM:617809)
Association type: MENDELIAN
Gene: LTBP3
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: LTBP3
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: LTBP3
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: LTBP3
Disease: DENTAL ANOMALIES AND SHORT STATURE (OMIM:601216)
Association type: MENDELIAN
Gene: LTBP3
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: LTBP3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LTBP3
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: LTBP3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LTBP3
Disease: Brachyolmia-amelogenesis imperfecta syndrome; Platyspondyly-amelogenesis imperfecta syndrome; Verloes-Bourguignon syndrome (ORPHA:2899)
Association type: UNKNOWN
Gene: LTBP3
Disease: Acromicric dysplasia (ORPHA:969)
Association type: UNKNOWN
Gene: LTBP3
Disease: Geleophysic dysplasia; Geleophysic dwarfism (ORPHA:2623)
Association type: UNKNOWN
Gene: HUWE1
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE (OMIM:309590)
Association type: MENDELIAN
Gene: HUWE1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: GUK1
Disease:  (OMIM:621071)
Association type: MENDELIAN
Gene: GPAA1
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 (OMIM:617810)
Association type: MENDELIAN
Gene: GPAA1
Disease: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome; GPAA1-related biosynthesis defect (ORPHA:529665)
Association type: UNKNOWN
Gene: NCF2
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2 (OMIM:233710)
Association type: MENDELIAN
Gene: NCF2
Disease: Chronic granulomatous disease; CGD; Chronic septic granulomatosis (ORPHA:379)
Association type: UNKNOWN
Gene: DAND5
Disease:  (OMIM:621079)
Association type: MENDELIAN
Gene: PIGC
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 (OMIM:617816)
Association type: MENDELIAN
Gene: PIGC
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: FOXP3
Disease: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED (OMIM:304790)
Association type: MENDELIAN
Gene: FOXP3
Disease: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; Autoimmune enteropathy type 1; IPEX (ORPHA:37042)
Association type: UNKNOWN
Gene: HSPB8
Disease:  (OMIM:621078)
Association type: MENDELIAN
Gene: HSPB8
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Association type: MENDELIAN
Gene: HSPB8
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Association type: MENDELIAN
Gene: HSPB8
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2L; CMT2L (ORPHA:99945)
Association type: UNKNOWN
Gene: HSPB8
Disease: Distal hereditary motor neuropathy type 2; Distal spinal muscular atrophy type 2; dHMN2; dSMA2 (ORPHA:139525)
Association type: UNKNOWN
Gene: HSPB8
Disease: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome (ORPHA:476093)
Association type: UNKNOWN
Gene: CIROZ
Disease:  (OMIM:621080)
Association type: MENDELIAN
Gene: BLTP1
Disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Association type: MENDELIAN
Gene: BLTP1
Disease: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome; Alkuraya-Kucinskas syndrome (ORPHA:610569)
Association type: UNKNOWN
Gene: DPYD
Disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Association type: MENDELIAN
Gene: DPYD
Disease: 1p21.3 microdeletion syndrome; Del(1)(p21.3); Monosomy 1p21.3 (ORPHA:293948)
Association type: UNKNOWN
Gene: DPYD
Disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Association type: UNKNOWN
Gene: GRIN1
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE (OMIM:617820)
Association type: MENDELIAN
Gene: GRIN1
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
Association type: MENDELIAN
Gene: GRIN1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101 (OMIM:619814)
Association type: MENDELIAN
Gene: GRIN1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: GRIN1
Disease: Bilateral generalized polymicrogyria (ORPHA:208447)
Association type: UNKNOWN
Gene: GRIN1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: GRIN1
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: FGFR2
Disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Association type: MENDELIAN
Gene: FGFR2
Disease: CROUZON SYNDROME (OMIM:123500)
Association type: MENDELIAN
Gene: FGFR2
Disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Association type: MENDELIAN
Gene: FGFR2
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION (OMIM:609579)
Association type: MENDELIAN
Gene: FGFR2
Disease: BENT BONE DYSPLASIA SYNDROME (OMIM:614592)
Association type: MENDELIAN
Gene: FGFR2
Disease: APERT SYNDROME (OMIM:101200)
Association type: MENDELIAN
Gene: FGFR2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FGFR2
Disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Association type: MENDELIAN
Gene: FGFR2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FGFR2
Disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Association type: MENDELIAN
Gene: FGFR2
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: FGFR2
Disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Association type: MENDELIAN
Gene: FGFR2
Disease: PFEIFFER SYNDROME (OMIM:101600)
Association type: MENDELIAN
Gene: FGFR2
Disease: Apert syndrome; ACS1; Acrocephalosyndactyly type 1 (ORPHA:87)
Association type: UNKNOWN
Gene: FGFR2
Disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Association type: UNKNOWN
Gene: FGFR2
Disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Association type: UNKNOWN
Gene: FGFR2
Disease: Jackson-Weiss syndrome; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; JWS (ORPHA:1540)
Association type: UNKNOWN
Gene: FGFR2
Disease: FGFR2-related bent bone dysplasia; Perinatal lethal bent bone dysplasia (ORPHA:313855)
Association type: UNKNOWN
Gene: FGFR2
Disease: Familial scaphocephaly syndrome, McGillivray type; Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome (ORPHA:168624)
Association type: UNKNOWN
Gene: FGFR2
Disease: Saethre-Chotzen syndrome; ACS3; Acrocephalosyndactyly type 3; SCS (ORPHA:794)
Association type: UNKNOWN
Gene: FGFR2
Disease: Pfeiffer syndrome type 3 (ORPHA:93260)
Association type: UNKNOWN
Gene: FGFR2
Disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Association type: UNKNOWN
Gene: FGFR2
Disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Association type: UNKNOWN
Gene: FGFR2
Disease: Lacrimoauriculodentodigital syndrome; LADD syndrome; LARD syndrome; Lacrimoauriculoradiodental syndrome; Levy-Hollister syndrome (ORPHA:2363)
Association type: UNKNOWN
Gene: FGFR2
Disease: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis (ORPHA:596008)
Association type: UNKNOWN
Gene: POR
Disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Association type: MENDELIAN
Gene: POR
Disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Association type: MENDELIAN
Gene: POR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POR
Disease: DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (OMIM:613571)
Association type: MENDELIAN
Gene: POR
Disease: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis; Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome (ORPHA:63269)
Association type: UNKNOWN
Gene: POR
Disease: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency; Congenital adrenal hyperplasia due to cytochrome POR deficiency; POR deficiency; PORD (ORPHA:95699)
Association type: UNKNOWN
Gene: TXNRD2
Disease: GLUCOCORTICOID DEFICIENCY 5 (OMIM:617825)
Association type: MENDELIAN
Gene: TXNRD2
Disease: Familial glucocorticoid deficiency (ORPHA:361)
Association type: UNKNOWN
Gene: TXNRD2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: KRT14
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED (OMIM:131800)
Association type: MENDELIAN
Gene: KRT14
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE (OMIM:131760)
Association type: MENDELIAN
Gene: KRT14
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED (OMIM:131900)
Association type: MENDELIAN
Gene: KRT14
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 (OMIM:601001)
Association type: MENDELIAN
Gene: KRT14
Disease: NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME (OMIM:161000)
Association type: MENDELIAN
Gene: KRT14
Disease: DERMATOPATHIA PIGMENTOSA RETICULARIS (OMIM:125595)
Association type: MENDELIAN
Gene: KRT14
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: KRT14
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: KRT14
Disease: Epidermolysis bullosa simplex with mottled pigmentation; EBS with mottled pigmentation; EBS-MP (ORPHA:79397)
Association type: UNKNOWN
Gene: KRT14
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: KRT14
Disease: Autosomal recessive generalized epidermolysis bullosa simplex; Autosomal recessive generalized EBS (ORPHA:89838)
Association type: UNKNOWN
Gene: KRT14
Disease: Dermatopathia pigmentosa reticularis (ORPHA:86920)
Association type: UNKNOWN
Gene: KRT14
Disease: Naegeli-Franceschetti-Jadassohn syndrome; NFJ syndrome; Naegeli syndrome (ORPHA:69087)
Association type: UNKNOWN
Gene: GABRB2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 (OMIM:617829)
Association type: MENDELIAN
Gene: GABRB2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: TRPM7
Disease: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
Association type: POLYGENIC
Gene: TRPM7
Disease: Parkinson-dementia complex of Guam; G-PDC; Guam disease; Guam parkinsonism-dementia complex; Lytico-Bodig disease (ORPHA:90020)
Association type: UNKNOWN
Gene: TRPM7
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: GINS1
Disease: IMMUNODEFICIENCY 55 (OMIM:617827)
Association type: MENDELIAN
Gene: GINS1
Disease: Combined immunodeficiency due to GINS1 deficiency; CID due to GINS1 deficiency; Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia; Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia (ORPHA:505227)
Association type: UNKNOWN
Gene: TRAF3
Disease:  (OMIM:621096)
Association type: MENDELIAN
Gene: TRAF3
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5 (OMIM:614849)
Association type: MENDELIAN
Gene: TRAF3
Disease: Herpes simplex virus encephalitis; HSE; HSV encephalitis; HSVE; Herpes simplex meningo-encephalitis; Herpes simplex neuroinvasion; Herpetic encephalitis (ORPHA:1930)
Association type: UNKNOWN
Gene: BAG3
Disease:  (OMIM:621095)
Association type: MENDELIAN
Gene: BAG3
Disease:  (OMIM:621094)
Association type: MENDELIAN
Gene: BAG3
Disease: MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
Association type: MENDELIAN
Gene: BAG3
Disease: CARDIOMYOPATHY, DILATED, 1HH (OMIM:613881)
Association type: MENDELIAN
Gene: BAG3
Disease: Muscular dystrophy, Selcen type (ORPHA:199340)
Association type: UNKNOWN
Gene: BAG3
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: PABPC1L
Disease:  (OMIM:621093)
Association type: MENDELIAN
Gene: PNKD
Disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Association type: MENDELIAN
Gene: PNKD
Disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Association type: UNKNOWN
Gene: DRAM2
Disease: CONE-ROD DYSTROPHY 21 (OMIM:616502)
Association type: MENDELIAN
Gene: DRAM2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: DRAM2
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: SLC19A2
Disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Association type: MENDELIAN
Gene: SLC19A2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SLC19A2
Disease: Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; TRMA; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss (ORPHA:49827)
Association type: UNKNOWN
Gene: COA6
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Association type: MENDELIAN
Gene: COA6
Disease: Fatal infantile cytochrome C oxidase deficiency; Fatal infantile COX deficiency; Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency (ORPHA:1561)
Association type: UNKNOWN
Gene: NUS1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Association type: MENDELIAN