TaoMedAI/RareMedData huggingface dataset:
Gene: GLUL
Disease: Congenital brain dysgenesis due to glutamine synthetase deficiency; Inherited GS deficiency; Inherited glutamine synthetase deficiency (ORPHA:71278)
Association type: UNKNOWN
Gene: FYCO1
Disease: CATARACT 18 (OMIM:610019)
Association type: MENDELIAN
Gene: FYCO1
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: FYCO1
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: PHGDH
Disease: NEU-LAXOVA SYNDROME 1 (OMIM:256520)
Association type: MENDELIAN
Gene: PHGDH
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PHGDH
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PHGDH
Disease: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY (OMIM:601815)
Association type: MENDELIAN
Gene: PHGDH
Disease: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form; PHGDH deficiency, infantile/juvenile form (ORPHA:79351)
Association type: UNKNOWN
Gene: PHGDH
Disease: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency; 3-phosphoglycerate dehydrogenase deficiency, prenatal form (ORPHA:583607)
Association type: UNKNOWN
Gene: SLC16A1
Disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7 (OMIM:610021)
Association type: MENDELIAN
Gene: SLC16A1
Disease: ERYTHROCYTE LACTATE TRANSPORTER DEFECT (OMIM:245340)
Association type: MENDELIAN
Gene: SLC16A1
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY (OMIM:616095)
Association type: MENDELIAN
Gene: SLC16A1
Disease: Exercise-induced hyperinsulinism; EIHI; Exercise-induced hyperinsulinemic hypoglycemia; Hyperinsulinism due to SLC16A1 deficiency; Hyperinsulinism due to monocarboxylate transporter 1 deficiency (ORPHA:165991)
Association type: UNKNOWN
Gene: SLC16A1
Disease: Metabolic myopathy due to lactate transporter defect; Erythrocyte lactate transporter defect (ORPHA:171690)
Association type: UNKNOWN
Gene: SLC16A1
Disease: Ketoacidosis due to monocarboxylate transporter-1 deficiency (ORPHA:438075)
Association type: UNKNOWN
Gene: PDE6H
Disease: RETINAL CONE DYSTROPHY 3A (OMIM:610024)
Association type: MENDELIAN
Gene: PDE6H
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PDE6H
Disease: Achromatopsia; ACHM; Complete or incomplete color blindness; Pingelapese blindness; Rod monochromacy; Rod monochromatism; Total color blindness (ORPHA:49382)
Association type: UNKNOWN
Gene: RET
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:142623)
Association type: POLYGENIC
Gene: RET
Disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA (OMIM:171400)
Association type: MENDELIAN
Gene: RET
Disease: PHEOCHROMOCYTOMA (OMIM:171300)
Association type: MENDELIAN
Gene: RET
Disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB (OMIM:162300)
Association type: MENDELIAN
Gene: RET
Disease: THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)
Association type: MENDELIAN
Gene: RET
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: RET
Disease: Haddad syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome (ORPHA:99803)
Association type: UNKNOWN
Gene: RET
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: RET
Disease: Familial medullary thyroid carcinoma; Familial MTC (ORPHA:99361)
Association type: UNKNOWN
Gene: RET
Disease: Renal agenesis, unilateral (ORPHA:93100)
Association type: UNKNOWN
Gene: RET
Disease: Renal agenesis, bilateral (ORPHA:1848)
Association type: UNKNOWN
Gene: RET
Disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Association type: UNKNOWN
Gene: RET
Disease: Multiple endocrine neoplasia type 2B; MEN2B; Multiple endocrine neoplasia type 3; Wagenmann-Froboese syndrome (ORPHA:247709)
Association type: UNKNOWN
Gene: RET
Disease: Multiple endocrine neoplasia type 2A; MEN2A; PTC syndrome; Sipple syndrome (ORPHA:247698)
Association type: UNKNOWN
Gene: RET
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: D2HGDH
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Association type: MENDELIAN
Gene: D2HGDH
Disease: D-2-hydroxyglutaric aciduria; D-2-HGA; D-2-hydroxyglutaric acidemia (ORPHA:79315)
Association type: UNKNOWN
Gene: TBX19
Disease: ACTH DEFICIENCY, ISOLATED (OMIM:201400)
Association type: MENDELIAN
Gene: TBX19
Disease: Congenital isolated ACTH deficiency (ORPHA:199296)
Association type: UNKNOWN
Gene: EPB42
Disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Association type: MENDELIAN
Gene: EPB42
Disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Association type: UNKNOWN
Gene: CD79B
Disease: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE (OMIM:612692)
Association type: MENDELIAN
Gene: CD79B
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: FIG4
Disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL (OMIM:612691)
Association type: MENDELIAN
Gene: FIG4
Disease: YUNIS-VARON SYNDROME (OMIM:216340)
Association type: MENDELIAN
Gene: FIG4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FIG4
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J (OMIM:611228)
Association type: MENDELIAN
Gene: FIG4
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11 (OMIM:612577)
Association type: MENDELIAN
Gene: FIG4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FIG4
Disease: Charcot-Marie-Tooth disease type 4J; CMT4J (ORPHA:139515)
Association type: UNKNOWN
Gene: FIG4
Disease: Bilateral parasagittal parieto-occipital polymicrogyria (ORPHA:208441)
Association type: UNKNOWN
Gene: FIG4
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: FIG4
Disease: Yunis-Varon syndrome; Cleidocranial dysplasia-micrognathia-absent thumbs syndrome (ORPHA:3472)
Association type: UNKNOWN
Gene: TUBB2B
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Association type: MENDELIAN
Gene: TUBB2B
Disease: Congenital fibrosis of extraocular muscles; FEOM (ORPHA:45358)
Association type: UNKNOWN
Gene: TUBB2B
Disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Association type: UNKNOWN
Gene: TUBB2B
Disease: Tubulinopathy-associated dysgyria; Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome (ORPHA:467166)
Association type: UNKNOWN
Gene: TUBB2B
Disease: Dysequilibrium syndrome; CAMRQ syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; Non-progressive cerebellar ataxia-intellectual disability syndrome; UTS; Uner Tan syndrome (ORPHA:1766)
Association type: UNKNOWN
Gene: PIP5K1C
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 (OMIM:611369)
Association type: MENDELIAN
Gene: PIP5K1C
Disease: Lethal congenital contracture syndrome type 3; LCCS3 (ORPHA:137783)
Association type: UNKNOWN
Gene: SLC26A3
Disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Association type: MENDELIAN
Gene: SLC26A3
Disease: Congenital chloride diarrhea (ORPHA:53689)
Association type: UNKNOWN
Gene: CDKN1C
Disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Association type: MENDELIAN
Gene: CDKN1C
Disease: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES (OMIM:614732)
Association type: MENDELIAN
Gene: CDKN1C
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CDKN1C
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CDKN1C
Disease: Beckwith-Wiedemann syndrome due to CDKN1C mutation (ORPHA:231120)
Association type: UNKNOWN
Gene: CDKN1C
Disease: Silver-Russell syndrome due to a point mutation (ORPHA:397590)
Association type: UNKNOWN
Gene: CDKN1C
Disease: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome (ORPHA:436144)
Association type: UNKNOWN
Gene: CDKN1C
Disease: IMAGe syndrome; Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome (ORPHA:85173)
Association type: UNKNOWN
Gene: H19
Disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Association type: MENDELIAN
Gene: H19
Disease: WILMS TUMOR 1 (OMIM:194070)
Association type: MENDELIAN
Gene: H19
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: H19
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: H19
Disease: Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
Association type: UNKNOWN
Gene: H19
Disease: Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
Association type: UNKNOWN
Gene: H19
Disease: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (ORPHA:231117)
Association type: UNKNOWN
Gene: H19
Disease: Beckwith-Wiedemann syndrome due to 11p15 microdeletion (ORPHA:231127)
Association type: UNKNOWN
Gene: H19
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: H19
Disease: Isolated hemihyperplasia; Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy (ORPHA:2128)
Association type: UNKNOWN
Gene: KCNQ1OT1
Disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Association type: MENDELIAN
Gene: KCNQ1OT1
Disease: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (ORPHA:231117)
Association type: UNKNOWN
Gene: KCNQ1OT1
Disease: Isolated hemihyperplasia; Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy (ORPHA:2128)
Association type: UNKNOWN
Gene: CNTNAP2
Disease: PITT-HOPKINS-LIKE SYNDROME 1 (OMIM:610042)
Association type: MENDELIAN
Gene: CNTNAP2
Disease: AUTISM, SUSCEPTIBILITY TO, 15 (OMIM:612100)
Association type: POLYGENIC
Gene: CNTNAP2
Disease: CNTNAP2-related developmental and epileptic encephalopathy; CDFE syndrome; CDFES; CNTNAP2-related DEE; Cortical dysplasia-focal epilepsy syndrome (ORPHA:163681)
Association type: UNKNOWN
Gene: RAD21
Disease: MUNGAN SYNDROME (OMIM:611376)
Association type: MENDELIAN
Gene: RAD21
Disease: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:614701)
Association type: MENDELIAN
Gene: RAD21
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RAD21
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RAD21
Disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Association type: UNKNOWN
Gene: RAD21
Disease: Trichorhinophalangeal syndrome type 2; Langer-Giedion syndrome (ORPHA:502)
Association type: UNKNOWN
Gene: DCN
Disease: CORNEAL DYSTROPHY, CONGENITAL STROMAL (OMIM:610048)
Association type: MENDELIAN
Gene: DCN
Disease: Congenital stromal corneal dystrophy; CSCD; Congenital hereditary stromal dystrophy; Witschel dystrophy (ORPHA:101068)
Association type: UNKNOWN
Gene: FAM111A
Disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Association type: MENDELIAN
Gene: FAM111A
Disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Association type: MENDELIAN
Gene: FAM111A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FAM111A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FAM111A
Disease: Osteocraniostenosis; Gracile bone dysplasia; Osteocraniosplenic syndrome (ORPHA:2763)
Association type: UNKNOWN
Gene: FAM111A
Disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Association type: UNKNOWN
Gene: CLCN5
Disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Association type: MENDELIAN
Gene: CLCN5
Disease: DENT DISEASE 1 (OMIM:300009)
Association type: MENDELIAN
Gene: CLCN5
Disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Association type: MENDELIAN
Gene: CLCN5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CLCN5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CLCN5
Disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Association type: MENDELIAN
Gene: CLCN5
Disease: Dent disease type 1 (ORPHA:93622)
Association type: UNKNOWN
Gene: LAMC2
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Association type: MENDELIAN
Gene: LAMC2
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE (OMIM:619785)
Association type: MENDELIAN
Gene: LAMC2
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE (OMIM:619786)
Association type: MENDELIAN
Gene: LAMC2
Disease: Severe generalized junctional epidermolysis bullosa; Epidermolysis bullosa letalis; JEB-H; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa, Herlitz-Pearson type; Severe generalized JEB (ORPHA:79404)
Association type: UNKNOWN
Gene: LAMC2
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: WHRN
Disease: USHER SYNDROME, TYPE IID (OMIM:611383)
Association type: MENDELIAN
Gene: WHRN
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 31 (OMIM:607084)
Association type: MENDELIAN
Gene: WHRN
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: WHRN
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: WHRN
Disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Association type: UNKNOWN
Gene: AP4E1
Disease: STUTTERING, FAMILIAL PERSISTENT, 1 (OMIM:184450)
Association type: MENDELIAN
Gene: AP4E1
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Association type: MENDELIAN
Gene: AP4E1
Disease: Severe intellectual disability and progressive spastic paraplegia; AP4 deficiency syndrome (ORPHA:280763)
Association type: UNKNOWN
Gene: BFSP1
Disease: CATARACT 33, MULTIPLE TYPES (OMIM:611391)
Association type: MENDELIAN
Gene: BFSP1
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CP
Disease: ACERULOPLASMINEMIA (OMIM:604290)
Association type: MENDELIAN
Gene: CP
Disease: Aceruloplasminemia; Hereditary ceruloplasmin deficiency (ORPHA:48818)
Association type: UNKNOWN
Gene: MPO
Disease: ALZHEIMER DISEASE (OMIM:104300)
Association type: POLYGENIC
Gene: MPO
Disease: MYELOPEROXIDASE DEFICIENCY (OMIM:254600)
Association type: MENDELIAN
Gene: MPO
Disease: Myeloperoxidase deficiency; MPO deficiency (ORPHA:2587)
Association type: UNKNOWN
Gene: NOS3
Disease: ALZHEIMER DISEASE (OMIM:104300)
Association type: POLYGENIC
Gene: NOS3
Disease: PREECLAMPSIA/ECLAMPSIA 1 (OMIM:189800)
Association type: POLYGENIC
Gene: NOS3
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: POLYGENIC
Gene: NOS3
Disease: STROKE, ISCHEMIC (OMIM:601367)
Association type: POLYGENIC
Gene: PLAU
Disease: ALZHEIMER DISEASE (OMIM:104300)
Association type: POLYGENIC
Gene: PLAU
Disease: QUEBEC PLATELET DISORDER (OMIM:601709)
Association type: MENDELIAN
Gene: PLAU
Disease: Quebec platelet disorder; Factor V Quebec (ORPHA:220436)
Association type: UNKNOWN
Gene: TMPRSS6
Disease: IRON-REFRACTORY IRON DEFICIENCY ANEMIA (OMIM:206200)
Association type: MENDELIAN
Gene: TMPRSS6
Disease: IRIDA syndrome; Iron-refractory iron deficiency anemia (ORPHA:209981)
Association type: UNKNOWN
Gene: SGCB
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 (OMIM:604286)
Association type: MENDELIAN
Gene: SGCB
Disease: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4; Autosomal recessive limb-girdle muscular dystrophy type 2E; Beta-sarcoglycan-related LGMD R4; Beta-sarcoglycanopathy; LGMD due to beta-sarcoglycan deficiency; LGMD type 2E; LGMD2E; Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; Limb-girdle muscular dystrophy type 2E (ORPHA:119)
Association type: UNKNOWN
Gene: SLC4A4
Disease: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION (OMIM:604278)
Association type: MENDELIAN
Gene: SLC4A4
Disease: Autosomal recessive proximal renal tubular acidosis; AR pRTA; Proximal renal tubular acidosis with ocular abnormalities and intellectual disability (ORPHA:93607)
Association type: UNKNOWN
Gene: NUP188
Disease: SANDESTIG-STEFANOVA SYNDROME (OMIM:618804)
Association type: MENDELIAN
Gene: TKFC
Disease: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME (OMIM:618805)
Association type: MENDELIAN
Gene: TKFC
Disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Association type: UNKNOWN
Gene: THG1L
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 (OMIM:618800)
Association type: MENDELIAN
Gene: TTC12
Disease: CILIARY DYSKINESIA, PRIMARY, 45 (OMIM:618801)
Association type: MENDELIAN
Gene: TTC12
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: FOXN1
Disease: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT (OMIM:618806)
Association type: MENDELIAN
Gene: FOXN1
Disease: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY (OMIM:601705)
Association type: MENDELIAN
Gene: FOXN1
Disease: T-cell immunodeficiency with thymic aplasia; Isolated aplasia/hypoplasia of the thymus; Isolated congenital athymia; Isolated congenital thymic aplasia/hypoplasia; Isolated thymic defect due to thymic aplasia/hypoplasia; Nezelof syndrome (ORPHA:83471)
Association type: UNKNOWN
Gene: FOXN1
Disease: Combined immunodeficiency due to FOXN1 haploinsufficiency (ORPHA:676039)
Association type: UNKNOWN
Gene: FOXN1
Disease: Severe combined immunodeficiency due to FOXN1 deficiency; Alymphoid cystic thymic dysgenesis; Nude/SCID; Nude/severe combined immunodeficiency; SCID due to FOXN1 deficiency; Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; Winged helix deficiency (ORPHA:169095)
Association type: UNKNOWN
Gene: LPA
Disease: LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS (OMIM:618807)
Association type: POLYGENIC
Gene: ABCA2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA (OMIM:618808)
Association type: MENDELIAN
Gene: ABCA2
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: ATPAF2
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 (OMIM:604273)
Association type: MENDELIAN
Gene: ATPAF2
Disease: Isolated ATP synthase deficiency; Isolated mitochondrial respiratory chain complex V deficiency (ORPHA:254913)
Association type: UNKNOWN
Gene: CYP7B1
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (OMIM:270800)
Association type: MENDELIAN
Gene: CYP7B1
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3 (OMIM:613812)
Association type: MENDELIAN
Gene: CYP7B1
Disease: Autosomal recessive spastic paraplegia type 5A; SPG5A (ORPHA:100986)
Association type: UNKNOWN
Gene: CYP7B1
Disease: Congenital bile acid synthesis defect type 3; BASD3; Oxysterol 7-alpha-hydroxylase deficiency (ORPHA:79302)
Association type: UNKNOWN
Gene: PNPLA6
Disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Association type: MENDELIAN
Gene: PNPLA6
Disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Association type: MENDELIAN
Gene: PNPLA6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PNPLA6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PNPLA6
Disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Association type: MENDELIAN
Gene: PNPLA6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PNPLA6
Disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Association type: MENDELIAN
Gene: PNPLA6
Disease: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome; Oliver-McFarlane syndrome (ORPHA:3363)
Association type: UNKNOWN
Gene: PNPLA6
Disease: Autosomal recessive spastic paraplegia type 39; SPG39; Spastic paraplegia due to NTE mutation; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Association type: UNKNOWN
Gene: PNPLA6
Disease: Laurence-Moon syndrome; LMS (ORPHA:2377)
Association type: UNKNOWN
Gene: PNPLA6
Disease: Ataxia-hypogonadism-choroidal dystrophy syndrome; Boucher-Neuhäuser syndrome (ORPHA:1180)
Association type: UNKNOWN
Gene: PNPLA6
Disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Association type: UNKNOWN
Gene: PNPO
Disease: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY (OMIM:610090)
Association type: MENDELIAN
Gene: PNPO
Disease: Pyridoxal phosphate-responsive seizures; PNPO deficiency; PNPO-related neonatal epileptic encephalopathy; Pyridoxal phosphate-dependent seizures; Pyridoxamine 5'-oxidase deficiency; Pyridoxamine 5'-phosphate oxidase deficiency (ORPHA:79096)
Association type: UNKNOWN
Gene: VSX2
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
Association type: MENDELIAN
Gene: VSX2
Disease: MICROPHTHALMIA, ISOLATED 2 (OMIM:610093)
Association type: MENDELIAN
Gene: VSX2
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: HNRNPA1
Disease: MYOPATHY, DISTAL, 3 (OMIM:610099)
Association type: MENDELIAN
Gene: HNRNPA1
Disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Association type: MENDELIAN
Gene: HNRNPA1
Disease: AMYOTROPHIC LATERAL SCLEROSIS 20 (OMIM:615426)
Association type: MENDELIAN
Gene: HNRNPA1
Disease: Finnish upper limb-onset distal myopathy; Distal myopathy type 3; MPD3 (ORPHA:399086)
Association type: UNKNOWN
Gene: HNRNPA1
Disease: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; IBMPFD; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis; Pagetoid neuroskeletal syndrome (ORPHA:52430)
Association type: UNKNOWN
Gene: HNRNPA1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: ATAD3A
Disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Association type: MENDELIAN
Gene: ATAD3A
Disease: HAREL-YOON SYNDROME (OMIM:617183)
Association type: MENDELIAN
Gene: ATAD3A
Disease: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation (ORPHA:615983)
Association type: UNKNOWN
Gene: ATAD3A
Disease: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster; Lethal 1p36.33 deletion syndrome (ORPHA:615986)
Association type: UNKNOWN
Gene: ATAD3A
Disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Association type: UNKNOWN
Gene: ATAD3A
Disease: 1p36.33 duplication syndrome (ORPHA:656279)
Association type: UNKNOWN
Gene: SLC25A21
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 (OMIM:618811)
Association type: MENDELIAN
Gene: DSPP
Disease: DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 (OMIM:605594)
Association type: MENDELIAN
Gene: DSPP
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: DSPP
Disease: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III (OMIM:125500)
Association type: MENDELIAN