TaoMedAI/RareMedData huggingface dataset:
Rare disease: Primary hyperoxaluria type 3 (Orphanet code 93600)
Associated genes:
Name: 4-hydroxy-2-oxoglutarate aldolase 1
Symbol: HOGA1
Synonyms: lang: en
text: DHDPS2
lang: en
text: FLJ37472
lang: en
text: N-acetylneuraminate pyruvate lyase 2 (putative)
lang: en
text: NPL2
lang: en
text: dihydrodipicolinate synthetase homolog 2 (E. coli)
GeneType: Name: gene with protein product
Rare disease: Primary hyperoxaluria type 2 (Orphanet code 93599)
Associated genes:
Name: glyoxylate and hydroxypyruvate reductase
Symbol: GRHPR
Synonyms: lang: en
text: PH2
lang: en
text: primary hyperoxaluria type 2
GeneType: Name: gene with protein product
Rare disease: Nephrogenic syndrome of inappropriate antidiuresis (Orphanet code 93606)
Associated genes:
Name: arginine vasopressin receptor 2
Symbol: AVPR2
Synonyms: lang: en
text: V2R
lang: en
text: nephrogenic diabetes insipidus
GeneType: Name: gene with protein product
Rare disease: VEXAS syndrome (Orphanet code 596753)
Associated genes:
Name: ubiquitin like modifier activating enzyme 1
Symbol: UBA1
Synonyms: lang: en
text: CFAP124
lang: en
text: POC20
lang: en
text: POC20 centriolar protein homolog (Chlamydomonas)
lang: en
text: UBA1, ubiquitin-activating enzyme E1 homolog (yeast)
lang: en
text: UBE1X
GeneType: Name: gene with protein product
Rare disease: Bartter syndrome type 3 (Orphanet code 93605)
Associated genes:
Name: chloride voltage-gated channel Kb
Symbol: CLCNKB
Synonyms: lang: en
text: CLCKB
lang: en
text: Chloride channel protein ClC-Kb
lang: en
text: ClC-K2
lang: en
text: ClC-Kb
lang: en
text: hClC-Kb
GeneType: Name: gene with protein product
Rare disease: Complete atrioventricular septal defect-tetralogy of Fallot (Orphanet code 99068)
Associated genes:
Name: nuclear receptor subfamily 2 group F member 2
Symbol: NR2F2
Synonyms: lang: en
text: COUP transcription factor II
lang: en
text: COUP-TFII
lang: en
text: COUPTF2
lang: en
text: COUPTFB
lang: en
text: NF-E3
lang: en
text: SVP40
GeneType: Name: gene with protein product
Name: GATA binding protein 4
Symbol: GATA4
GeneType: Name: gene with protein product
Name: cysteine rich with EGF like domains 1
Symbol: CRELD1
Synonyms: lang: en
text: CIRRIN
GeneType: Name: gene with protein product
Rare disease: Complete atrioventricular septal defect with ventricular hypoplasia (Orphanet code 99067)
Associated genes:
Name: nuclear receptor subfamily 2 group F member 2
Symbol: NR2F2
Synonyms: lang: en
text: COUP transcription factor II
lang: en
text: COUP-TFII
lang: en
text: COUPTF2
lang: en
text: COUPTFB
lang: en
text: NF-E3
lang: en
text: SVP40
GeneType: Name: gene with protein product
Name: cysteine rich with EGF like domains 1
Symbol: CRELD1
Synonyms: lang: en
text: CIRRIN
GeneType: Name: gene with protein product
Name: GATA binding protein 6
Symbol: GATA6
GeneType: Name: gene with protein product
Name: GATA binding protein 4
Symbol: GATA4
GeneType: Name: gene with protein product
Rare disease: Atrial septal defect, ostium primum type (Orphanet code 99106)
Associated genes:
Name: tolloid like 1
Symbol: TLL1
GeneType: Name: gene with protein product
Rare disease: Atrial septal defect, sinus venosus type (Orphanet code 99105)
Associated genes:
Name: Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Symbol: CITED2
Synonyms: lang: en
text: MRG1
GeneType: Name: gene with protein product
Rare disease: Atrial septal defect, ostium secundum type (Orphanet code 99103)
Associated genes:
Name: actin alpha cardiac muscle 1
Symbol: ACTC1
Synonyms: lang: en
text: CMD1R
GeneType: Name: gene with protein product
Name: GATA binding protein 4
Symbol: GATA4
GeneType: Name: gene with protein product
Name: myosin heavy chain 6
Symbol: MYH6
Synonyms: lang: en
text: cardiomyopathy, hypertrophic 1
GeneType: Name: gene with protein product
Name: NK2 homeobox 5
Symbol: NKX2-5
Synonyms: lang: en
text: CSX1
lang: en
text: NKX2.5
lang: en
text: NKX4-1
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Name: T-box transcription factor 20
Symbol: TBX20
GeneType: Name: gene with protein product
Name: T-box transcription factor 20
Symbol: TBX20
GeneType: Name: gene with protein product
Name: tolloid like 1
Symbol: TLL1
GeneType: Name: gene with protein product
Name: Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Symbol: CITED2
Synonyms: lang: en
text: MRG1
GeneType: Name: gene with protein product
Name: GATA binding protein 6
Symbol: GATA6
GeneType: Name: gene with protein product
Rare disease: Lymphedema-posterior choanal atresia syndrome (Orphanet code 99141)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 14
Symbol: PTPN14
Synonyms: lang: en
text: PEZ
lang: en
text: PTPD2
GeneType: Name: gene with protein product
Rare disease: Familial medullary thyroid carcinoma (Orphanet code 99361)
Associated genes:
Name: estrogen receptor 2
Symbol: ESR2
Synonyms: lang: en
text: ER beta
lang: en
text: ER-beta
lang: en
text: Erb
lang: en
text: NR3A2
lang: en
text: estrogen receptor beta
lang: en
text: nuclear receptor subfamily 3 group A member 2
lang: en
text: oestrogen receptor beta
GeneType: Name: gene with protein product
Name: neurotrophic receptor tyrosine kinase 1
Symbol: NTRK1
Synonyms: lang: en
text: MTC
lang: en
text: TRK
lang: en
text: TRKA
lang: en
text: high affinity nerve growth factor receptor
lang: en
text: tropomyosin receptor kinase A
GeneType: Name: gene with protein product
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Rare disease: Primary dystonia, DYT2 type (Orphanet code 99657)
Associated genes:
Name: hippocalcin
Symbol: HPCA
GeneType: Name: gene with protein product
Rare disease: Complete androgen insensitivity syndrome (Orphanet code 99429)
Associated genes:
Name: androgen receptor
Symbol: AR
Synonyms: lang: en
text: AIS
lang: en
text: HUMARA
lang: en
text: Kennedy disease
lang: en
text: NR3C4
lang: en
text: SMAX1
lang: en
text: testicular feminization
GeneType: Name: gene with protein product
Rare disease: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (Orphanet code 99646)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 1
Symbol: IDH1
GeneType: Name: gene with protein product
Rare disease: Menke-Hennekam syndrome (Orphanet code 592574)
Associated genes:
Name: CREB binding protein
Symbol: CREBBP
Synonyms: lang: en
text: CBP
lang: en
text: KAT3A
lang: en
text: RTS
GeneType: Name: gene with protein product
Rare disease: GNAO1-related developmental delay-seizures-movement disorder spectrum (Orphanet code 592564)
Associated genes:
Name: G protein subunit alpha o1
Symbol: GNAO1
Synonyms: lang: en
text: G-ALPHA-o
GeneType: Name: gene with protein product
Rare disease: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome (Orphanet code 592570)
Associated genes:
Name: TNF receptor associated factor 7
Symbol: TRAF7
Synonyms: lang: en
text: DKFZp586I021
lang: en
text: MGC7807
lang: en
text: RNF119
GeneType: Name: gene with protein product
Rare disease: Leber plus disease (Orphanet code 99718)
Associated genes:
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
Symbol: MT-ND4
Synonyms: lang: en
text: NAD4
lang: en
text: NADH-ubiquinone oxidoreductase chain 4
lang: en
text: ND4
lang: en
text: complex I ND4 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
Symbol: MT-ND6
Synonyms: lang: en
text: NAD6
lang: en
text: NADH-ubiquinone oxidoreductase chain 6
lang: en
text: ND6
lang: en
text: complex I ND6 subunit
GeneType: Name: gene with protein product
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
Symbol: MT-ND3
Synonyms: lang: en
text: NAD3
lang: en
text: NADH-ubiquinone oxidoreductase chain 3
lang: en
text: ND3
lang: en
text: complex I ND3 subunit
GeneType: Name: gene with protein product
Rare disease: Pituitary gigantism (Orphanet code 99725)
Associated genes:
Name: aryl hydrocarbon receptor interacting protein
Symbol: AIP
Synonyms: lang: en
text: ARA9
lang: en
text: Ah receptor activated 9
lang: en
text: FK506-binding protein 37
lang: en
text: FKBP prolyl isomerase 16
lang: en
text: FKBP16
lang: en
text: FKBP37
lang: en
text: X-associated protein-2
lang: en
text: XAP2
lang: en
text: aryl hydrocarbon receptor-associated protein 9
lang: en
text: hepatitis B virus X-associated cellular protein 2
GeneType: Name: gene with protein product
Name: menin 1
Symbol: MEN1
Synonyms: lang: en
text: menin
GeneType: Name: gene with protein product
Rare disease: Congenital-onset Steinert myotonic dystrophy (Orphanet code 589821)
Associated genes:
Name: DM1 protein kinase
Symbol: DMPK
Synonyms: lang: en
text: DM protein kinase
lang: en
text: DM1PK
lang: en
text: DMK
lang: en
text: MDPK
lang: en
text: MT-PK
lang: en
text: Myotonin-protein kinase
lang: en
text: dystrophia myotonica 1
lang: en
text: myotonic dystrophy associated protein kinase
lang: en
text: myotonin protein kinase A
lang: en
text: thymopoietin homolog
GeneType: Name: gene with protein product
Rare disease: Juvenile-onset Steinert myotonic dystrophy (Orphanet code 589827)
Associated genes:
Name: DM1 protein kinase
Symbol: DMPK
Synonyms: lang: en
text: DM protein kinase
lang: en
text: DM1PK
lang: en
text: DMK
lang: en
text: MDPK
lang: en
text: MT-PK
lang: en
text: Myotonin-protein kinase
lang: en
text: dystrophia myotonica 1
lang: en
text: myotonic dystrophy associated protein kinase
lang: en
text: myotonin protein kinase A
lang: en
text: thymopoietin homolog
GeneType: Name: gene with protein product
Rare disease: Childhood-onset Steinert myotonic dystrophy (Orphanet code 589824)
Associated genes:
Name: DM1 protein kinase
Symbol: DMPK
Synonyms: lang: en
text: DM protein kinase
lang: en
text: DM1PK
lang: en
text: DMK
lang: en
text: MDPK
lang: en
text: MT-PK
lang: en
text: Myotonin-protein kinase
lang: en
text: dystrophia myotonica 1
lang: en
text: myotonic dystrophy associated protein kinase
lang: en
text: myotonin protein kinase A
lang: en
text: thymopoietin homolog
GeneType: Name: gene with protein product
Rare disease: Late-onset Steinert myotonic dystrophy (Orphanet code 589833)
Associated genes:
Name: DM1 protein kinase
Symbol: DMPK
Synonyms: lang: en
text: DM protein kinase
lang: en
text: DM1PK
lang: en
text: DMK
lang: en
text: MDPK
lang: en
text: MT-PK
lang: en
text: Myotonin-protein kinase
lang: en
text: dystrophia myotonica 1
lang: en
text: myotonic dystrophy associated protein kinase
lang: en
text: myotonin protein kinase A
lang: en
text: thymopoietin homolog
GeneType: Name: gene with protein product
Rare disease: Adult-onset Steinert myotonic dystrophy (Orphanet code 589830)
Associated genes:
Name: DM1 protein kinase
Symbol: DMPK
Synonyms: lang: en
text: DM protein kinase
lang: en
text: DM1PK
lang: en
text: DMK
lang: en
text: MDPK
lang: en
text: MT-PK
lang: en
text: Myotonin-protein kinase
lang: en
text: dystrophia myotonica 1
lang: en
text: myotonic dystrophy associated protein kinase
lang: en
text: myotonin protein kinase A
lang: en
text: thymopoietin homolog
GeneType: Name: gene with protein product
Rare disease: Early-onset obesity-hyperphagia-severe developmental delay syndrome (Orphanet code 99704)
Associated genes:
Name: neurotrophic receptor tyrosine kinase 2
Symbol: NTRK2
Synonyms: lang: en
text: BDNF/NT-3 growth factors receptor
lang: en
text: TRKB
GeneType: Name: gene with protein product
Rare disease: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (Orphanet code 589905)
Associated genes:
Name: pleckstrin homology domain interacting protein
Symbol: PHIP
Synonyms: lang: en
text: BRWD2
lang: en
text: DCAF14
lang: en
text: DDB1 and CUL4 associated factor 14
lang: en
text: FLJ20705
lang: en
text: ndrp
GeneType: Name: gene with protein product
Rare disease: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome (Orphanet code 589856)
Associated genes:
Name: lysine methyltransferase 2D
Symbol: KMT2D
Synonyms: lang: en
text: ALL1-related
lang: en
text: ALR
lang: en
text: CAGL114
lang: en
text: MLL4
lang: en
text: histone-lysine N-methyltransferase 2D
GeneType: Name: gene with protein product
Rare disease: Kostmann syndrome (Orphanet code 99749)
Associated genes:
Name: HCLS1 associated protein X-1
Symbol: HAX1
Synonyms: lang: en
text: HAX-1
lang: en
text: HCLS1 (and PKD2) associated protein
lang: en
text: HCLSBP1
lang: en
text: HS1BP1
GeneType: Name: gene with protein product
Rare disease: Embryonal rhabdomyosarcoma (Orphanet code 99757)
Associated genes:
Name: solute carrier family 22 member 18
Symbol: SLC22A18
Synonyms: lang: en
text: BWR1A
lang: en
text: ITM
lang: en
text: TSSC5
lang: en
text: imprinted multi-membrane-spanning polyspecific transporter-like gene 1
lang: en
text: organic cation transporter like 2
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: neurofibromin 1
Symbol: NF1
Synonyms: lang: en
text: Watson disease
lang: en
text: neurofibromatosis
lang: en
text: von Recklinghausen disease
GeneType: Name: gene with protein product
Name: dicer 1, ribonuclease III
Symbol: DICER1
Synonyms: lang: en
text: Dicer
lang: en
text: HERNA
lang: en
text: K12H4.8-LIKE
lang: en
text: KIAA0928
lang: en
text: dicer 1, double-stranded RNA-specific endoribonuclease
GeneType: Name: gene with protein product
Rare disease: Alveolar rhabdomyosarcoma (Orphanet code 99756)
Associated genes:
Name: forkhead box O1
Symbol: FOXO1
Synonyms: lang: en
text: FKH1
GeneType: Name: gene with protein product
Name: paired box 3
Symbol: PAX3
Synonyms: lang: en
text: HUP2
lang: en
text: PAX-3
GeneType: Name: gene with protein product
Name: paired box 7
Symbol: PAX7
Synonyms: lang: en
text: Hup1
GeneType: Name: gene with protein product
Name: neurofibromin 1
Symbol: NF1
Synonyms: lang: en
text: Watson disease
lang: en
text: neurofibromatosis
lang: en
text: von Recklinghausen disease
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Rare disease: Myotonia fluctuans (Orphanet code 99734)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 4
Symbol: SCN4A
Synonyms: lang: en
text: HYPP
lang: en
text: Nav1.4
lang: en
text: SkM1
GeneType: Name: gene with protein product
Rare disease: Isolated sulfite oxidase deficiency (Orphanet code 99731)
Associated genes:
Name: sulfite oxidase
Symbol: SUOX
GeneType: Name: gene with protein product
Rare disease: Myotonia permanens (Orphanet code 99735)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 4
Symbol: SCN4A
Synonyms: lang: en
text: HYPP
lang: en
text: Nav1.4
lang: en
text: SkM1
GeneType: Name: gene with protein product
Rare disease: Acetazolamide-responsive myotonia (Orphanet code 99736)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 4
Symbol: SCN4A
Synonyms: lang: en
text: HYPP
lang: en
text: Nav1.4
lang: en
text: SkM1
GeneType: Name: gene with protein product
Rare disease: King-Denborough syndrome (Orphanet code 99741)
Associated genes:
Name: ryanodine receptor 1
Symbol: RYR1
Synonyms: lang: en
text: PPP1R137
lang: en
text: RYR
lang: en
text: protein phosphatase 1, regulatory subunit 137
GeneType: Name: gene with protein product
Rare disease: Amish lethal microcephaly (Orphanet code 99742)
Associated genes:
Name: solute carrier family 25 member 19
Symbol: SLC25A19
Synonyms: lang: en
text: DNC
lang: en
text: Deoxynucleotide carrier
lang: en
text: MUP1
lang: en
text: Mitochondrial thiamine pyrophosphate carrier
lang: en
text: TPC
lang: en
text: mitochondrial uncoupling protein 1
GeneType: Name: gene with protein product
Rare disease: Familial focal epilepsy with variable foci (Orphanet code 98820)
Associated genes:
Name: DEP domain containing 5, GATOR1 subcomplex subunit
Symbol: DEPDC5
Synonyms: lang: en
text: DEP.5
lang: en
text: KIAA0645
GeneType: Name: gene with protein product
Name: NPR2 like, GATOR1 complex subunit
Symbol: NPRL2
Synonyms: lang: en
text: NPR2
lang: en
text: NPR2L
GeneType: Name: gene with protein product
Name: NPR3 like, GATOR1 complex subunit
Symbol: NPRL3
Synonyms: lang: en
text: CGTHBA
lang: en
text: HS-40
lang: en
text: MARE
lang: en
text: NPR3
lang: en
text: RMD11
lang: en
text: conserved gene telomeric to alpha globin cluster
GeneType: Name: gene with protein product
Rare disease: Landau-Kleffner syndrome (Orphanet code 98818)
Associated genes:
Name: glutamate ionotropic receptor NMDA type subunit 2A
Symbol: GRIN2A
Synonyms: lang: en
text: GluN2A
lang: en
text: NR2A
GeneType: Name: gene with protein product
Rare disease: Hypohidrotic ectodermal dysplasia with immunodeficiency (Orphanet code 98813)
Associated genes:
Name: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Symbol: IKBKG
Synonyms: lang: en
text: 14.7K (adenovirus E3 protein) interacting protein 3
lang: en
text: FIP-3
lang: en
text: FIP3
lang: en
text: Fip3p
lang: en
text: I-kappa-B kinase subunit gamma
lang: en
text: IKK-gamma
lang: en
text: IKKAP1
lang: en
text: IKKG
lang: en
text: IkB kinase subunit gamma
lang: en
text: IkB kinase-associated protein 1
lang: en
text: NEMO
lang: en
text: NF-kappa-B essential modulator
lang: en
text: ZC2HC9
GeneType: Name: gene with protein product
Name: NFKB inhibitor alpha
Symbol: NFKBIA
Synonyms: lang: en
text: IKBA
lang: en
text: IkappaBalpha
lang: en
text: MAD-3
lang: en
text: NF-kappa-B inhibitor alpha
GeneType: Name: gene with protein product
Rare disease: Paroxysmal exertion-induced dyskinesia (Orphanet code 98811)
Associated genes:
Name: solute carrier family 2 member 1
Symbol: SLC2A1
Synonyms: lang: en
text: DYT18
lang: en
text: DYT9
lang: en
text: GLUT-1
lang: en
text: dystonia gene 18
lang: en
text: dystonia gene 9
GeneType: Name: gene with protein product
Name: proline rich transmembrane protein 2
Symbol: PRRT2
Synonyms: lang: en
text: DKFZp547J199
lang: en
text: DSPB3
lang: en
text: EKD1
lang: en
text: Episodic kinesigenic dyskinesia 1
lang: en
text: FICCA
lang: en
text: FLJ25513
lang: en
text: IFITMD1
lang: en
text: Interferon induced transmembrane protein domain containing 1
lang: en
text: PKC
lang: en
text: Paroxysmal kinesigenic dyskinesia
lang: en
text: dispanin subfamily B member 3
lang: en
text: interferon induced transmembrane protein domain containing 1
GeneType: Name: gene with protein product
Rare disease: Paroxysmal non-kinesigenic dyskinesia (Orphanet code 98810)
Associated genes:
Name: PNKD metallo-beta-lactamase domain containing
Symbol: PNKD
Synonyms: lang: en
text: BRP17
lang: en
text: DKFZp564N1362
lang: en
text: DYT8
lang: en
text: FKSG19
lang: en
text: FPD1
lang: en
text: KIAA1184
lang: en
text: KIPP1184
lang: en
text: MGC31943
lang: en
text: MR-1
lang: en
text: MR-1S
lang: en
text: PDC
lang: en
text: PKND1
lang: en
text: TAHCCP2
lang: en
text: myofibrillogenesis regulator 1
GeneType: Name: gene with protein product
Name: proline rich transmembrane protein 2
Symbol: PRRT2
Synonyms: lang: en
text: DKFZp547J199
lang: en
text: DSPB3
lang: en
text: EKD1
lang: en
text: Episodic kinesigenic dyskinesia 1
lang: en
text: FICCA
lang: en
text: FLJ25513
lang: en
text: IFITMD1
lang: en
text: Interferon induced transmembrane protein domain containing 1
lang: en
text: PKC
lang: en
text: Paroxysmal kinesigenic dyskinesia
lang: en
text: dispanin subfamily B member 3
lang: en
text: interferon induced transmembrane protein domain containing 1
GeneType: Name: gene with protein product
Rare disease: Paroxysmal kinesigenic dyskinesia (Orphanet code 98809)
Associated genes:
Name: proline rich transmembrane protein 2
Symbol: PRRT2
Synonyms: lang: en
text: DKFZp547J199
lang: en
text: DSPB3
lang: en
text: EKD1
lang: en
text: Episodic kinesigenic dyskinesia 1
lang: en
text: FICCA
lang: en
text: FLJ25513
lang: en
text: IFITMD1
lang: en
text: Interferon induced transmembrane protein domain containing 1
lang: en
text: PKC
lang: en
text: Paroxysmal kinesigenic dyskinesia
lang: en
text: dispanin subfamily B member 3
lang: en
text: interferon induced transmembrane protein domain containing 1
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily A member 1
Symbol: KCNA1
Synonyms: lang: en
text: HUK1
lang: en
text: Kv1.1
lang: en
text: MBK1
lang: en
text: RBK1
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant dopa-responsive dystonia (Orphanet code 98808)
Associated genes:
Name: GTP cyclohydrolase 1
Symbol: GCH1
Synonyms: lang: en
text: DYT5a
lang: en
text: GTP cyclohydrolase I
lang: en
text: GTPCH1
lang: en
text: dopa-responsive dystonia
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 4 group A member 2
Symbol: NR4A2
Synonyms: lang: en
text: HZF-3
lang: en
text: NOT
lang: en
text: RNR1
lang: en
text: TINUR
GeneType: Name: gene with protein product
Name: inosine monophosphate dehydrogenase 2
Symbol: IMPDH2
GeneType: Name: gene with protein product
Rare disease: Primary dystonia, DYT13 type (Orphanet code 98807)
Associated genes:
Name: dystonia 13, torsion
Symbol: DYT13
GeneType: Name: Disorder-associated locus
Rare disease: Primary mediastinal large B-cell lymphoma (Orphanet code 98838)
Associated genes:
Name: BCL6 transcription repressor
Symbol: BCL6
Synonyms: lang: en
text: BCL5
lang: en
text: BCL6A
lang: en
text: LAZ3
lang: en
text: ZBTB27
GeneType: Name: gene with protein product
Name: exportin 1
Symbol: XPO1
Synonyms: lang: en
text: CRM-1
lang: en
text: CRM1
lang: en
text: chromosome region maintenance 1 homolog (yeast)
lang: en
text: emb
GeneType: Name: gene with protein product
Rare disease: Acute undifferentiated leukemia (Orphanet code 98835)
Associated genes:
Name: lysine methyltransferase 2A
Symbol: KMT2A
Synonyms: lang: en
text: ALL-1
lang: en
text: ALL1
lang: en
text: CXXC7
lang: en
text: HRX
lang: en
text: HTRX
lang: en
text: HTRX1
lang: en
text: Histone-lysine N-methyltransferase 2A
lang: en
text: MLL1
lang: en
text: MLL1A
lang: en
text: TRX1
GeneType: Name: gene with protein product
Rare disease: Acute myeloblastic leukemia without maturation (Orphanet code 98833)
Associated genes:
Name: fms related receptor tyrosine kinase 3
Symbol: FLT3
Synonyms: lang: en
text: CD135
lang: en
text: FLK2
lang: en
text: STK1
GeneType: Name: gene with protein product
Name: nucleophosmin 1
Symbol: NPM1
Synonyms: lang: en
text: B23
lang: en
text: NPM
lang: en
text: Nucleophosmin/nucleoplasmin family, member 1
lang: en
text: Numatrin
lang: en
text: nucleolar phosphoprotein B23
lang: en
text: nucleophosmin/nucleoplasmin family, member 1
lang: en
text: numatrin
GeneType: Name: gene with protein product
Rare disease: Acute myeloblastic leukemia with maturation (Orphanet code 98834)
Associated genes:
Name: fms related receptor tyrosine kinase 3
Symbol: FLT3
Synonyms: lang: en
text: CD135
lang: en
text: FLK2
lang: en
text: STK1
GeneType: Name: gene with protein product
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Name: nucleophosmin 1
Symbol: NPM1
Synonyms: lang: en
text: B23
lang: en
text: NPM
lang: en
text: Nucleophosmin/nucleoplasmin family, member 1
lang: en
text: Numatrin
lang: en
text: nucleolar phosphoprotein B23
lang: en
text: nucleophosmin/nucleoplasmin family, member 1
lang: en
text: numatrin
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with 11q23 abnormalities (Orphanet code 98831)
Associated genes:
Name: lysine methyltransferase 2A
Symbol: KMT2A
Synonyms: lang: en
text: ALL-1
lang: en
text: ALL1
lang: en
text: CXXC7
lang: en
text: HRX
lang: en
text: HTRX
lang: en
text: HTRX1
lang: en
text: Histone-lysine N-methyltransferase 2A
lang: en
text: MLL1
lang: en
text: MLL1A
lang: en
text: TRX1
GeneType: Name: gene with protein product