TaoMedAI/RareMedData huggingface dataset:
Gene: HLA-B
Disease: Reactive arthritis; Fiessinger-Leroy disease (ORPHA:29207)
Association type: UNKNOWN
Gene: HLA-B
Disease: Takayasu arteritis (ORPHA:3287)
Association type: UNKNOWN
Gene: HLA-B
Disease: Pulmonary arterial hypertension associated with connective tissue disease; PAH associated with connective tissue disease (ORPHA:275798)
Association type: UNKNOWN
Gene: HLA-B
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: HLA-B
Disease: Stevens-Johnson syndrome; Dermatostomatitis, Stevens Johnson type (ORPHA:36426)
Association type: UNKNOWN
Gene: SMG9
Disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Association type: MENDELIAN
Gene: SMG9
Disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Association type: MENDELIAN
Gene: PDE10A
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 (OMIM:616922)
Association type: MENDELIAN
Gene: PDE10A
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Association type: MENDELIAN
Gene: PDE10A
Disease: Infantile-onset generalized dyskinesia with orofacial involvement; Infantile-onset orofacial-trunk-limbs dyskinesia (ORPHA:494526)
Association type: UNKNOWN
Gene: PDE10A
Disease: Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
Association type: UNKNOWN
Gene: MAD1L1
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Association type: MENDELIAN
Gene: MAD1L1
Disease: PROSTATE CANCER (OMIM:176807)
Association type: MENDELIAN
Gene: KMT2D
Disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Association type: MENDELIAN
Gene: KMT2D
Disease: KABUKI SYNDROME 1 (OMIM:147920)
Association type: MENDELIAN
Gene: KMT2D
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: KMT2D
Disease: Kabuki syndrome; Kabuki make-up syndrome; Niikawa-Kuroki syndrome (ORPHA:2322)
Association type: UNKNOWN
Gene: KMT2D
Disease: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome; KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome (ORPHA:589856)
Association type: UNKNOWN
Gene: SLF2
Disease: ATELIS SYNDROME 1 (OMIM:620184)
Association type: MENDELIAN
Gene: SMC5
Disease: ATELIS SYNDROME 2 (OMIM:620185)
Association type: MENDELIAN
Gene: TXNL4A
Disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Association type: MENDELIAN
Gene: TXNL4A
Disease: Burn-McKeown syndrome; Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (ORPHA:1200)
Association type: UNKNOWN
Gene: SLC35C1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Association type: MENDELIAN
Gene: SLC35C1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC35C1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC35C1
Disease: Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG-IIc; CDG2C; LAD-II; Rambam-Hasharon syndrome; SLC35C1-CDG (ORPHA:99843)
Association type: UNKNOWN
Gene: ZNF668
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES (OMIM:620194)
Association type: MENDELIAN
Gene: PGM2L1
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Association type: MENDELIAN
Gene: PGM2L1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ATP2B3
Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 (OMIM:302500)
Association type: MENDELIAN
Gene: ATP2B3
Disease: X-linked non progressive cerebellar ataxia (ORPHA:314978)
Association type: UNKNOWN
Gene: GLMN
Disease: GLOMUVENOUS MALFORMATIONS (OMIM:138000)
Association type: MENDELIAN
Gene: GLMN
Disease: Glomuvenous malformation; Glomangiomatosis; Hereditary multiple glomangiomas; Multiple glomus tumors; VMGLOM; Venous malformations with glomus cells (ORPHA:83454)
Association type: UNKNOWN
Gene: SHOX
Disease: LANGER MESOMELIC DYSPLASIA (OMIM:249700)
Association type: MENDELIAN
Gene: SHOX
Disease: LERI-WEILL DYSCHONDROSTEOSIS (OMIM:127300)
Association type: MENDELIAN
Gene: SHOX
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SHOX
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SHOX
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED (OMIM:300582)
Association type: MENDELIAN
Gene: SHOX
Disease: Léri-Weill dyschondrosteosis; Léri-Weill syndrome (ORPHA:240)
Association type: UNKNOWN
Gene: SHOX
Disease: Langer mesomelic dysplasia; Mesomelic dwarfism, Langer type (ORPHA:2632)
Association type: UNKNOWN
Gene: SHOX
Disease: SHOX-related short stature (ORPHA:314795)
Association type: UNKNOWN
Gene: WWC1
Disease: MEMORY QUANTITATIVE TRAIT LOCUS (OMIM:615602)
Association type: MENDELIAN
Gene: GPR88
Disease: CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
Association type: MENDELIAN
Gene: CD3G
Disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Association type: MENDELIAN
Gene: CD3G
Disease: Combined immunodeficiency due to CD3gamma deficiency (ORPHA:169082)
Association type: UNKNOWN
Gene: LTV1
Disease: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES (OMIM:620199)
Association type: MENDELIAN
Gene: SRC
Disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Association type: MENDELIAN
Gene: SRC
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: SRC
Disease: Hereditary thrombocytopenia with early-onset myelofibrosis (ORPHA:480851)
Association type: UNKNOWN
Gene: EHHADH
Disease: FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Association type: MENDELIAN
Gene: EHHADH
Disease: Bifunctional enzyme deficiency (ORPHA:300)
Association type: UNKNOWN
Gene: EHHADH
Disease: Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome; Primary Fanconi renal syndrome (ORPHA:3337)
Association type: UNKNOWN
Gene: ESRRB
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 35 (OMIM:608565)
Association type: MENDELIAN
Gene: ESRRB
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: PABPN1
Disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY (OMIM:164300)
Association type: MENDELIAN
Gene: PABPN1
Disease: Oculopharyngeal muscular dystrophy; OPMD (ORPHA:270)
Association type: UNKNOWN
Gene: CFAP74
Disease: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS (OMIM:620197)
Association type: MENDELIAN
Gene: CFAP74
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: TRU-TCA1-1
Disease: THYROID HORMONE METABOLISM, ABNORMAL, 3 (OMIM:620198)
Association type: MENDELIAN
Gene: KCNU1
Disease: SPERMATOGENIC FAILURE 79 (OMIM:620196)
Association type: MENDELIAN
Gene: HSPG2
Disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Association type: MENDELIAN
Gene: HSPG2
Disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Association type: MENDELIAN
Gene: HSPG2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HSPG2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HSPG2
Disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Association type: UNKNOWN
Gene: HSPG2
Disease: Schwartz-Jampel syndrome; Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Myotonic chondrodystrophy; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Osteochondromuscular dystrophy; SJS; SJS1; Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome (ORPHA:800)
Association type: UNKNOWN
Gene: HSPG2
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: OPN1MW
Disease: COLORBLINDNESS, PARTIAL, DEUTAN SERIES (OMIM:303800)
Association type: MENDELIAN
Gene: OPN1MW
Disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Association type: MENDELIAN
Gene: OPN1MW
Disease: Blue cone monochromatism; Atypical X-linked achromatopsia; Blue cone monochromacy; Color blindness, blue monocone monochromatic type; S cone monochromacy; S cone monochromatism; X-linked incomplete achromatopsia (ORPHA:16)
Association type: UNKNOWN
Gene: OPN1MW
Disease: X-linked cone dysfunction syndrome with myopia; Bornholm eye disease (ORPHA:90001)
Association type: UNKNOWN
Gene: OPN1MW
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: HSPA9
Disease: ANEMIA, SIDEROBLASTIC, 4 (OMIM:182170)
Association type: MENDELIAN
Gene: HSPA9
Disease: EVEN-PLUS SYNDROME (OMIM:616854)
Association type: MENDELIAN
Gene: HSPA9
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HSPA9
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HSPA9
Disease: Autosomal recessive sideroblastic anemia; ARSA; Congenital sideroblastic anemia (ORPHA:260305)
Association type: UNKNOWN
Gene: HSPA9
Disease: EVEN-plus syndrome; Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome (ORPHA:496751)
Association type: UNKNOWN
Gene: TCF3
Disease: AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT (OMIM:616941)
Association type: MENDELIAN
Gene: TCF3
Disease: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE (OMIM:619824)
Association type: MENDELIAN
Gene: TCF3
Disease: B-lymphoblastic leukemia/lymphoma with t(17;19) (ORPHA:641375)
Association type: UNKNOWN
Gene: TCF3
Disease: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1 (ORPHA:585956)
Association type: UNKNOWN
Gene: TCF3
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: ERCC6
Disease: PREMATURE OVARIAN FAILURE 11 (OMIM:616946)
Association type: MENDELIAN
Gene: ERCC6
Disease: COCKAYNE SYNDROME B (OMIM:133540)
Association type: MENDELIAN
Gene: ERCC6
Disease: DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
Association type: MENDELIAN
Gene: ERCC6
Disease: UV-SENSITIVE SYNDROME 1 (OMIM:600630)
Association type: MENDELIAN
Gene: ERCC6
Disease: LUNG CANCER (OMIM:211980)
Association type: POLYGENIC
Gene: ERCC6
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
Association type: MENDELIAN
Gene: ERCC6
Disease: MACULAR DEGENERATION, AGE-RELATED, 5 (OMIM:613761)
Association type: POLYGENIC
Gene: ERCC6
Disease: COFS syndrome; Cerebrooculofacioskeletal syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Association type: UNKNOWN
Gene: ERCC6
Disease: UV-sensitive syndrome (ORPHA:178338)
Association type: UNKNOWN
Gene: ERCC6
Disease: Cockayne syndrome type 3; Cockayne syndrome type III (ORPHA:90324)
Association type: UNKNOWN
Gene: ERCC6
Disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Association type: UNKNOWN
Gene: ERCC6
Disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Association type: UNKNOWN
Gene: CD3E
Disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Association type: MENDELIAN
Gene: CD3E
Disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Association type: UNKNOWN
Gene: GTF2E2
Disease: TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE (OMIM:616943)
Association type: MENDELIAN
Gene: GTF2E2
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: TDP2
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Association type: MENDELIAN
Gene: TDP2
Disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency; SCAR23; Spinocerebellar ataxia autosomal recessive type 23 (ORPHA:404493)
Association type: UNKNOWN
Gene: WDR36
Disease: GLAUCOMA 1, OPEN ANGLE, G (OMIM:609887)
Association type: MENDELIAN
Gene: TLR5
Disease: LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO (OMIM:608556)
Association type: POLYGENIC
Gene: TLR5
Disease: MELIOIDOSIS, SUSCEPTIBILITY TO (OMIM:615557)
Association type: POLYGENIC
Gene: TLR5
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1 (OMIM:601744)
Association type: POLYGENIC
Gene: VWA3B
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Association type: MENDELIAN
Gene: CTNNA3
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 (OMIM:615616)
Association type: MENDELIAN
Gene: CTNNA3
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: CTNNA3
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: CTNNA3
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: SYCE1
Disease: PREMATURE OVARIAN FAILURE 12 (OMIM:616947)
Association type: MENDELIAN
Gene: SYCE1
Disease: SPERMATOGENIC FAILURE 15 (OMIM:616950)
Association type: MENDELIAN
Gene: SYCE1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: CD3D
Disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Association type: MENDELIAN
Gene: CD3D
Disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Association type: UNKNOWN
Gene: REEP2
Disease: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
Association type: MENDELIAN
Gene: REEP2
Disease: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE (OMIM:620606)
Association type: MENDELIAN
Gene: REEP2
Disease: Autosomal spastic paraplegia type 72; SPG72 (ORPHA:401849)
Association type: UNKNOWN
Gene: TELO2
Disease: YOU-HOOVER-FONG SYNDROME (OMIM:616954)
Association type: MENDELIAN
Gene: TELO2
Disease: TELO2-related intellectual disability-neurodevelopmental disorder; You-Hoover-Fong syndrome (ORPHA:488642)
Association type: UNKNOWN
Gene: TNC
Disease: DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
Association type: MENDELIAN
Gene: TNC
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: TRNT1
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
Association type: MENDELIAN
Gene: TRNT1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TRNT1
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY (OMIM:616084)
Association type: MENDELIAN
Gene: TRNT1
Disease: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome; SIFD syndrome (ORPHA:369861)
Association type: UNKNOWN
Gene: ALG1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Association type: MENDELIAN
Gene: ALG1
Disease: ALG1-CDG; CDG syndrome type Ik; CDG-Ik; CDG1K; Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; Congenital disorder of glycosylation type Ik; Mannosyltransferase 1 deficiency (ORPHA:79327)
Association type: UNKNOWN
Gene: ZNF469
Disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Association type: MENDELIAN
Gene: ZNF469
Disease: Brittle cornea syndrome; Ehlers-Danlos syndrome type 6B (ORPHA:90354)
Association type: UNKNOWN
Gene: ATL3
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IF (OMIM:615632)
Association type: MENDELIAN
Gene: ATL3
Disease: Hereditary sensory and autonomic neuropathy type 1; HSAN1; Hereditary sensory and autonomic neuropathy type I (ORPHA:36386)
Association type: UNKNOWN
Gene: HADH
Disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Association type: MENDELIAN
Gene: HADH
Disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Association type: MENDELIAN
Gene: HADH
Disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to SCHAD deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency (ORPHA:71212)
Association type: UNKNOWN
Gene: SLC34A1
Disease: HYPERCALCEMIA, INFANTILE, 2 (OMIM:616963)
Association type: MENDELIAN
Gene: SLC34A1
Disease: FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
Association type: MENDELIAN
Gene: SLC34A1
Disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Association type: MENDELIAN
Gene: SLC34A1
Disease: Dominant hypophosphatemia with nephrolithiasis or osteoporosis (ORPHA:244305)
Association type: UNKNOWN
Gene: SLC34A1
Disease: Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome; Primary Fanconi renal syndrome (ORPHA:3337)
Association type: UNKNOWN
Gene: SLC34A1
Disease: Hereditary hypophosphatemic rickets with hypercalciuria; HHRH (ORPHA:157215)
Association type: UNKNOWN
Gene: SLC34A1
Disease: Autosomal recessive infantile hypercalcemia; Familial infantile hypercalcemia with suppressed intact parathyroid hormone (ORPHA:300547)
Association type: UNKNOWN
Gene: DYNC2I2
Disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Association type: MENDELIAN
Gene: DYNC2I2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DYNC2I2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DYNC2I2
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type; Short rib-polydactyly syndrome type 3 (ORPHA:93271)
Association type: UNKNOWN
Gene: DYNC2I2
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: CDIN1
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib (OMIM:615631)
Association type: MENDELIAN
Gene: CDIN1
Disease: Congenital dyserythropoietic anemia type I; CDA I; CDA type 1; CDA type I; Congenital dyserythropoietic anemia type 1 (ORPHA:98869)
Association type: UNKNOWN
Gene: ADK
Disease: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
Association type: MENDELIAN
Gene: ADK
Disease: Hypermethioninemia encephalopathy due to adenosine kinase deficiency; ADK hypermethioninemia; Hypermethioninemia encephalopathy due to ADK deficiency (ORPHA:289290)
Association type: UNKNOWN
Gene: GALK1
Disease: GALACTOSEMIA II (OMIM:230200)
Association type: MENDELIAN
Gene: GALK1
Disease: Galactokinase deficiency; GALK deficiency; GALK-D; Galactokinase deficiency galactosemia; Galactosemia type 2 (ORPHA:79237)
Association type: UNKNOWN
Gene: MCM2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 70 (OMIM:616968)
Association type: MENDELIAN
Gene: MCM2
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: CSPP1
Disease: JOUBERT SYNDROME 21 (OMIM:615636)
Association type: MENDELIAN
Gene: CSPP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CSPP1
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy; JBTS with JATD; Joubert syndrome with JATD (ORPHA:397715)
Association type: UNKNOWN
Gene: CSPP1
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: CSPP1
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: KPTN
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Association type: MENDELIAN
Gene: KPTN
Disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Association type: UNKNOWN
Gene: SCN8A
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Association type: MENDELIAN
Gene: SCN8A
Disease: MYOCLONUS, FAMILIAL, 2 (OMIM:618364)
Association type: MENDELIAN
Gene: SCN8A
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 (OMIM:617080)
Association type: MENDELIAN
Gene: SCN8A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Association type: MENDELIAN
Gene: SCN8A
Disease: Self-limited infantile epilepsy; BFIE; BFIS; Benign familial infantile convulsions; Benign familial infantile epilepsy; Benign familial infantile seizures; SeLIE (ORPHA:306)
Association type: UNKNOWN
Gene: SCN8A
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: SCN8A
Disease: Infantile convulsions and choreoathetosis; ICCA syndrome; Paroxysmal kinesigenic dyskinesia and infantile convulsions (ORPHA:31709)
Association type: UNKNOWN
Gene: SCN8A
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: MIR184
Disease: EDICT SYNDROME (OMIM:614303)
Association type: MENDELIAN
Gene: MIR184
Disease: EDICT syndrome; Autosomal dominant keratoconus with early-onset anterior polar cataracts; Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome; Familial keratoconus with cataract; KTCNCT (ORPHA:293936)
Association type: UNKNOWN
Gene: DUOX2
Disease: THYROID DYSHORMONOGENESIS 6 (OMIM:607200)
Association type: MENDELIAN
Gene: DUOX2
Disease: Genetic transient congenital hypothyroidism (ORPHA:226316)
Association type: UNKNOWN
Gene: DUOX2
Disease: Familial thyroid dyshormonogenesis; Thyroid dyshormonogenesis (ORPHA:95716)
Association type: UNKNOWN
Gene: AMACR
Disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Association type: MENDELIAN
Gene: AMACR
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Association type: MENDELIAN
Gene: AMACR
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: AMACR
Disease: Congenital bile acid synthesis defect type 4; 2-methylacyl-CoA racemase deficiency; AMACR deficiency; Alpha-methyl-acyl-CoA racemase deficiency; BASD4; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome (ORPHA:79095)
Association type: UNKNOWN
Gene: CD164
Disease: DEAFNESS, AUTOSOMAL DOMINANT 66 (OMIM:616969)
Association type: MENDELIAN