TaoMedAI/RareMedData huggingface dataset:
Rare disease: Best vitelliform macular dystrophy (Orphanet code 1243)
Associated genes:
Name: bestrophin 1
Symbol: BEST1
Synonyms: lang: en
text: BEST
lang: en
text: BMD
lang: en
text: Best disease
lang: en
text: RP50
GeneType: Name: gene with protein product
Rare disease: Classic congenital lipoid adrenal hyperplasia due to STAR deficency (Orphanet code 325524)
Associated genes:
Name: steroidogenic acute regulatory protein
Symbol: STAR
Synonyms: lang: en
text: STARD1
lang: en
text: StAR
lang: en
text: StAR related lipid transfer (START) domain containing 1
GeneType: Name: gene with protein product
Rare disease: Leydig cell hypoplasia due to LHB deficiency (Orphanet code 325448)
Associated genes:
Name: luteinizing hormone subunit beta
Symbol: LHB
Synonyms: lang: en
text: CGB4
lang: en
text: LSH-B
lang: en
text: hLHB
lang: en
text: interstitial cell stimulating hormone, beta chain
lang: en
text: luteinizing hormone beta subunit
lang: en
text: lutropin, beta chain
GeneType: Name: gene with protein product
Rare disease: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency (Orphanet code 325529)
Associated genes:
Name: steroidogenic acute regulatory protein
Symbol: STAR
Synonyms: lang: en
text: STARD1
lang: en
text: StAR
lang: en
text: StAR related lipid transfer (START) domain containing 1
GeneType: Name: gene with protein product
Rare disease: Proteasome-associated autoinflammatory syndrome (Orphanet code 324977)
Associated genes:
Name: proteasome 20S subunit beta 8
Symbol: PSMB8
Synonyms: lang: en
text: D6S216E
lang: en
text: PSMB5i
lang: en
text: RING10
lang: en
text: beta5i
lang: en
text: proteasome subunit ß5i
GeneType: Name: gene with protein product
Rare disease: ABetaA21G amyloidosis (Orphanet code 324718)
Associated genes:
Name: amyloid beta precursor protein
Symbol: APP
Synonyms: lang: en
text: alpha-sAPP
lang: en
text: peptidase nexin-II
GeneType: Name: gene with protein product
Rare disease: ABeta amyloidosis, Italian type (Orphanet code 324713)
Associated genes:
Name: amyloid beta precursor protein
Symbol: APP
Synonyms: lang: en
text: alpha-sAPP
lang: en
text: peptidase nexin-II
GeneType: Name: gene with protein product
Rare disease: SRD5A3-CDG (Orphanet code 324737)
Associated genes:
Name: steroid 5 alpha-reductase 3
Symbol: SRD5A3
Synonyms: lang: en
text: 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+))
lang: en
text: FLJ13352
lang: en
text: SRD5A2L
lang: en
text: SRD5A2L1
lang: en
text: polyprenol reductase
GeneType: Name: gene with protein product
Rare disease: ABeta amyloidosis, Arctic type (Orphanet code 324723)
Associated genes:
Name: amyloid beta precursor protein
Symbol: APP
Synonyms: lang: en
text: alpha-sAPP
lang: en
text: peptidase nexin-II
GeneType: Name: gene with protein product
Rare disease: ABeta amyloidosis, Iowa type (Orphanet code 324708)
Associated genes:
Name: amyloid beta precursor protein
Symbol: APP
Synonyms: lang: en
text: alpha-sAPP
lang: en
text: peptidase nexin-II
GeneType: Name: gene with protein product
Rare disease: ABetaL34V amyloidosis (Orphanet code 324703)
Associated genes:
Name: amyloid beta precursor protein
Symbol: APP
Synonyms: lang: en
text: alpha-sAPP
lang: en
text: peptidase nexin-II
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation (Orphanet code 324611)
Associated genes:
Name: kinesin family member 5A
Symbol: KIF5A
Synonyms: lang: en
text: D12S1889
lang: en
text: MY050
lang: en
text: NKHC
lang: en
text: neuron-specific kinesin heavy chain
GeneType: Name: gene with protein product
Rare disease: Classic multiminicore myopathy (Orphanet code 324604)
Associated genes:
Name: selenoprotein N
Symbol: SELENON
Synonyms: lang: en
text: RSS
lang: en
text: SELN
GeneType: Name: gene with protein product
Name: titin
Symbol: TTN
Synonyms: lang: en
text: CMH9
lang: en
text: CMPD4
lang: en
text: FLJ32040
lang: en
text: LGMD2J
lang: en
text: MYLK5
lang: en
text: TMD
GeneType: Name: gene with protein product
Name: myosin heavy chain 7
Symbol: MYH7
Synonyms: lang: en
text: CMD1S
GeneType: Name: gene with protein product
Rare disease: Familial dyskinesia and facial myokymia (Orphanet code 324588)
Associated genes:
Name: adenylate cyclase 5
Symbol: ADCY5
Synonyms: lang: en
text: AC5
GeneType: Name: gene with protein product
Rare disease: X-linked cleft palate and ankyloglossia (Orphanet code 324601)
Associated genes:
Name: T-box transcription factor 22
Symbol: TBX22
GeneType: Name: gene with protein product
Rare disease: Benign Samaritan congenital myopathy (Orphanet code 324581)
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: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (Orphanet code 324585)
Associated genes:
Name: myelin protein zero
Symbol: MPZ
Synonyms: lang: en
text: CMT2I
lang: en
text: CMT2J
lang: en
text: HMSNIB
lang: en
text: P0
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 8 (Orphanet code 324569)
Associated genes:
Name: charged multivesicular body protein 1A
Symbol: CHMP1A
Synonyms: lang: en
text: CHMP1
lang: en
text: KIAA0047
lang: en
text: VPS46 homolog A (S. cerevisiae)
lang: en
text: Vps46A
GeneType: Name: gene with protein product
Rare disease: Hyperinsulinism due to HNF1A deficiency (Orphanet code 324575)
Associated genes:
Name: HNF1 homeobox A
Symbol: HNF1A
Synonyms: lang: en
text: HNF1
lang: en
text: HNF1a
lang: en
text: LFB1
GeneType: Name: gene with protein product
Rare disease: Hypopigmentation-punctate palmoplantar keratoderma syndrome (Orphanet code 324561)
Associated genes:
Name: ectonucleotide pyrophosphatase/phosphodiesterase 1
Symbol: ENPP1
Synonyms: lang: en
text: PC-1
lang: en
text: PCA1
GeneType: Name: gene with protein product
Rare disease: Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation (Orphanet code 324530)
Associated genes:
Name: phospholipase C gamma 2
Symbol: PLCG2
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 11 (Orphanet code 324535)
Associated genes:
Name: required for meiotic nuclear division 1 homolog
Symbol: RMND1
Synonyms: lang: en
text: FLJ20627
lang: en
text: RMD1
lang: en
text: bA351K16.3
GeneType: Name: gene with protein product
Rare disease: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (Orphanet code 324525)
Associated genes:
Name: mitochondrially encoded tRNA-Leu (UUA/G) 1
Symbol: MT-TL1
Synonyms: lang: en
text: TRNL1
GeneType: Name: Non-coding RNA
Rare disease: Autosomal recessive axonal neuropathy with neuromyotonia (Orphanet code 324442)
Associated genes:
Name: histidine triad nucleotide binding protein 1
Symbol: HINT1
Synonyms: lang: en
text: PKCI-1
GeneType: Name: gene with protein product
Rare disease: ALG13-CDG (Orphanet code 324422)
Associated genes:
Name: ALG13 UDP-N-acetylglucosaminyltransferase subunit
Symbol: ALG13
Synonyms: lang: en
text: CDG1S
lang: en
text: FLJ23018
lang: en
text: MDS031
lang: en
text: N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
lang: en
text: TDRD13
lang: en
text: YGL047W
lang: en
text: tudor domain containing 13
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Orphanet code 324410)
Associated genes:
Name: chloride intracellular channel 2
Symbol: CLIC2
Synonyms: lang: en
text: CLCNL2
lang: en
text: XAP121
GeneType: Name: gene with protein product
Rare disease: Sinoatrial node dysfunction and deafness (Orphanet code 324321)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 D
Symbol: CACNA1D
Synonyms: lang: en
text: CACH3
lang: en
text: CACN4
lang: en
text: Cav1.3
GeneType: Name: gene with protein product
Rare disease: Multiple paragangliomas associated with polycythemia (Orphanet code 324299)
Associated genes:
Name: endothelial PAS domain protein 1
Symbol: EPAS1
Synonyms: lang: en
text: HIF-1 alpha-like factor
lang: en
text: HIF2A
lang: en
text: HLF
lang: en
text: MOP2
lang: en
text: PASD2
lang: en
text: bHLHe73
GeneType: Name: gene with protein product
Rare disease: T-cell immunodeficiency with epidermodysplasia verruciformis (Orphanet code 324294)
Associated genes:
Name: ras homolog family member H
Symbol: RHOH
Synonyms: lang: en
text: RhoH
lang: en
text: TTF
GeneType: Name: gene with protein product
Rare disease: Early-onset Lafora body disease (Orphanet code 324290)
Associated genes:
Name: PR/SET domain 8
Symbol: PRDM8
Synonyms: lang: en
text: KMT8D
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency (Orphanet code 324262)
Associated genes:
Name: glutamate metabotropic receptor 1
Symbol: GRM1
Synonyms: lang: en
text: GPRC1A
lang: en
text: MGLUR1
lang: en
text: PPP1R85
lang: en
text: mGlu1
lang: en
text: protein phosphatase 1, regulatory subunit 85
GeneType: Name: gene with protein product
Rare disease: MT-ATP6-related mitochondrial spastic paraplegia (Orphanet code 320360)
Associated genes:
Name: mitochondrially encoded ATP synthase membrane subunit 6
Symbol: MT-ATP6
Synonyms: lang: en
text: ATP6
lang: en
text: ATPase-6
lang: en
text: Su6m
lang: en
text: mitochondrially encoded ATP synthase membrane subunit a
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 41 (Orphanet code 320355)
Associated genes:
Name: spastic paraplegia 41 (autosomal dominant)
Symbol: SPG41
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 43 (Orphanet code 320370)
Associated genes:
Name: chromosome 19 open reading frame 12
Symbol: C19ORF12
Synonyms: lang: en
text: DKFZP762D096
lang: en
text: MGC10922
lang: en
text: MPAN
lang: en
text: NBIA4
lang: en
text: membrane protein-associated neurodegeneration
lang: en
text: neurodegeneration with brain iron accumulation 4
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 36 (Orphanet code 320365)
Associated genes:
Name: spastic paraplegia 36 (autosomal dominant)
Symbol: SPG36
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 54 (Orphanet code 320380)
Associated genes:
Name: DDHD domain containing 2
Symbol: DDHD2
Synonyms: lang: en
text: KIAA0725
lang: en
text: SPG54
lang: en
text: iPLA1?
lang: en
text: iPLA1gamma
lang: en
text: intracellular phospholipase A1 gamma
lang: en
text: p125B
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 55 (Orphanet code 320375)
Associated genes:
Name: mitochondrial translation release factor in rescue
Symbol: MTRFR
Synonyms: lang: en
text: COXPD7
lang: en
text: FLJ38663
lang: en
text: SPG55
lang: en
text: mtRF-R
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 46 (Orphanet code 320391)
Associated genes:
Name: glucosylceramidase beta 2
Symbol: GBA2
Synonyms: lang: en
text: AD035
lang: en
text: Bile acid beta-glucosidase
lang: en
text: DKFZp762K054
lang: en
text: KIAA1605
lang: en
text: Non-lysosomal glucosylceramidase
lang: en
text: bile acid beta-glucosidase
lang: en
text: glucocerebrosidase 2
lang: en
text: non-lysosomal glucosylceramidase
GeneType: Name: gene with protein product
Rare disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation (Orphanet code 320385)
Associated genes:
Name: tectonin beta-propeller repeat containing 2
Symbol: TECPR2
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 44 (Orphanet code 320401)
Associated genes:
Name: gap junction protein gamma 2
Symbol: GJC2
Synonyms: lang: en
text: CX46.6
lang: en
text: CX47
lang: en
text: SPG44
lang: en
text: connexin 47
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 45 (Orphanet code 320396)
Associated genes:
Name: 5'-nucleotidase, cytosolic II
Symbol: NT5C2
Synonyms: lang: en
text: GMP
lang: en
text: PNT5
lang: en
text: SPG65
lang: en
text: cN-II
lang: en
text: purine 5' nucleotidase
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 56 (Orphanet code 320411)
Associated genes:
Name: cytochrome P450 family 2 subfamily U member 1
Symbol: CYP2U1
Synonyms: lang: en
text: SPG49
lang: en
text: spastic paraplegia 49
GeneType: Name: gene with protein product
Rare disease: Spastic paraplegia-optic atrophy-neuropathy syndrome (Orphanet code 320406)
Associated genes:
Name: fibronectin leucine rich transmembrane protein 1
Symbol: FLRT1
Synonyms: lang: en
text: MGC21624
lang: en
text: SPG68
GeneType: Name: gene with protein product
Name: kinesin light chain 2
Symbol: KLC2
Synonyms: lang: en
text: FLJ12387
GeneType: Name: gene with protein product
Rare disease: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency (Orphanet code 319547)
Associated genes:
Name: interferon gamma receptor 2
Symbol: IFNGR2
Synonyms: lang: en
text: AF-1
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 14 (Orphanet code 319519)
Associated genes:
Name: phenylalanyl-tRNA synthetase 2, mitochondrial
Symbol: FARS2
Synonyms: lang: en
text: Phenylalanine tRNA ligase 2, mitochondrial
lang: en
text: dJ236A3.1
lang: en
text: mtPheRS
lang: en
text: phenylalanine tRNA ligase 2, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 15 (Orphanet code 319524)
Associated genes:
Name: mitochondrial methionyl-tRNA formyltransferase
Symbol: MTFMT
Synonyms: lang: en
text: FMT1
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 9 (Orphanet code 319509)
Associated genes:
Name: mitochondrial ribosomal protein L3
Symbol: MRPL3
Synonyms: lang: en
text: MRL3
lang: en
text: uL3m
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 13 (Orphanet code 319514)
Associated genes:
Name: polyribonucleotide nucleotidyltransferase 1
Symbol: PNPT1
Synonyms: lang: en
text: 3'-5' RNA exonuclease
lang: en
text: OLD35
lang: en
text: PNPase
lang: en
text: Polynucleotide phosphorylase
lang: en
text: old-35
lang: en
text: polynucleotide phosphorylase
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency (Orphanet code 319589)
Associated genes:
Name: interferon gamma receptor 2
Symbol: IFNGR2
Synonyms: lang: en
text: AF-1
GeneType: Name: gene with protein product
Rare disease: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (Orphanet code 319595)
Associated genes:
Name: signal transducer and activator of transcription 1
Symbol: STAT1
Synonyms: lang: en
text: ISGF-3
lang: en
text: STAT91
lang: en
text: transcription factor ISGF-3 components p91/p84
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency (Orphanet code 319574)
Associated genes:
Name: interferon gamma receptor 2
Symbol: IFNGR2
Synonyms: lang: en
text: AF-1
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency (Orphanet code 319581)
Associated genes:
Name: interferon gamma receptor 1
Symbol: IFNGR1
Synonyms: lang: en
text: CD119
GeneType: Name: gene with protein product
Rare disease: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency (Orphanet code 319563)
Associated genes:
Name: ISG15 ubiquitin like modifier
Symbol: ISG15
Synonyms: lang: en
text: IFI15
lang: en
text: UCRP
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency (Orphanet code 319569)
Associated genes:
Name: interferon gamma receptor 1
Symbol: IFNGR1
Synonyms: lang: en
text: CD119
GeneType: Name: gene with protein product
Rare disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency (Orphanet code 319552)
Associated genes:
Name: interleukin 12 receptor subunit beta 1
Symbol: IL12RB1
Synonyms: lang: en
text: CD212
GeneType: Name: gene with protein product
Rare disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency (Orphanet code 319558)
Associated genes:
Name: interleukin 12B
Symbol: IL12B
Synonyms: lang: en
text: CLMF
lang: en
text: CLMF2
lang: en
text: IL-12B
lang: en
text: IL12, subunit p40
lang: en
text: NKSF
lang: en
text: cytotoxic lymphocyte maturation factor 2, p40
lang: en
text: interleukin 12, p40
lang: en
text: interleukin-12 beta chain
lang: en
text: natural killer cell stimulatory factor, 40 kD subunit
lang: en
text: natural killer cell stimulatory factor-2
GeneType: Name: gene with protein product
Rare disease: Constitutional megaloblastic anemia with severe neurologic disease (Orphanet code 319651)
Associated genes:
Name: dihydrofolate reductase
Symbol: DHFR
Synonyms: lang: en
text: DHFR1
GeneType: Name: gene with protein product
Rare disease: PGM1-CDG (Orphanet code 319646)
Associated genes:
Name: phosphoglucomutase 1
Symbol: PGM1
GeneType: Name: gene with protein product
Rare disease: Retinal macular dystrophy type 2 (Orphanet code 319640)
Associated genes:
Name: prominin 1
Symbol: PROM1
Synonyms: lang: en
text: AC133
lang: en
text: AC133 antigen
lang: en
text: CD133
lang: en
text: CORD12
lang: en
text: RP41
lang: en
text: Retinitis pigmentosa 41, Cone-rod dystrophy 12
GeneType: Name: gene with protein product
Rare disease: Amyloidosis cutis dyschromia (Orphanet code 319635)
Associated genes:
Name: glycoprotein nmb
Symbol: GPNMB
Synonyms: lang: en
text: HGFIN
lang: en
text: NMB
lang: en
text: glycoprotein NMB
lang: en
text: glycoprotein nmb-like protein
lang: en
text: glycoprotein nonmetastatic melanoma protein B
lang: en
text: hematopoietic growth factor inducible neurokinin-1
lang: en
text: osteoactivin
lang: en
text: transmembrane glycoprotein
GeneType: Name: gene with protein product
Rare disease: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency (Orphanet code 319623)
Associated genes:
Name: cytochrome b-245 beta chain
Symbol: CYBB
Synonyms: lang: en
text: Cytochrome b-245 heavy chain
lang: en
text: Cytochrome b558 subunit beta
lang: en
text: GP91-PHOX
lang: en
text: GP91PHOX
lang: en
text: NADPH oxidase 2
lang: en
text: NOX2
lang: en
text: p91-PHOX
GeneType: Name: gene with protein product
Rare disease: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency (Orphanet code 319612)
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
Rare disease: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency (Orphanet code 319600)
Associated genes:
Name: interferon regulatory factor 8
Symbol: IRF8
Synonyms: lang: en
text: ICSBP
lang: en
text: IRF-8
GeneType: Name: gene with protein product
Rare disease: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet code 319678)
Associated genes:
Name: coenzyme Q9
Symbol: COQ9
Synonyms: lang: en
text: DKFZP434K046
GeneType: Name: gene with protein product
Name: coenzyme Q7, hydroxylase
Symbol: COQ7
Synonyms: lang: en
text: 5-demethoxyubiquinone hydroxylase
lang: en
text: CAT5
lang: en
text: CLK-1
GeneType: Name: gene with protein product
Rare disease: Microcephalic primordial dwarfism, Dauber type (Orphanet code 319675)
Associated genes:
Name: ninein
Symbol: NIN
GeneType: Name: gene with protein product
Rare disease: Alazami syndrome (Orphanet code 319671)
Associated genes:
Name: La ribonucleoprotein 7, transcriptional regulator
Symbol: LARP7
Synonyms: lang: en
text: DKFZP564K112
lang: en
text: HDCMA18P
lang: en
text: P-TEFb-interaction protein for 7SK stability
lang: en
text: PIP7S
GeneType: Name: gene with protein product
Rare disease: Papillary renal cell carcinoma (Orphanet code 319298)
Associated genes:
Name: MET proto-oncogene, receptor tyrosine kinase
Symbol: MET
Synonyms: lang: en
text: DFNB97
lang: en
text: HGFR
lang: en
text: RCCP2
lang: en
text: hepatocyte growth factor receptor
GeneType: Name: gene with protein product
Name: melanocyte inducing transcription factor
Symbol: MITF
Synonyms: lang: en
text: MI
lang: en
text: bHLHe32
lang: en
text: homolog of mouse microphthalmia
GeneType: Name: gene with protein product
Rare disease: Chromophobe renal cell carcinoma (Orphanet code 319303)
Associated genes:
Name: HNF1 homeobox A
Symbol: HNF1A
Synonyms: lang: en
text: HNF1
lang: en
text: HNF1a
lang: en
text: LFB1
GeneType: Name: gene with protein product
Rare disease: MiT family translocation renal cell carcinoma (Orphanet code 319308)
Associated genes:
Name: proline rich mitotic checkpoint control factor
Symbol: PRCC
Synonyms: lang: en
text: RCCP1
GeneType: Name: gene with protein product
Name: transcription factor binding to IGHM enhancer 3
Symbol: TFE3
Synonyms: lang: en
text: TFEA
lang: en
text: bHLHe33
lang: en
text: transcription factor E family, member A
GeneType: Name: gene with protein product
Name: ASPSCR1 tether for SLC2A4, UBX domain containing
Symbol: ASPSCR1
Synonyms: lang: en
text: ASPL
lang: en
text: ASPS
lang: en
text: TUG
lang: en
text: Tether containing UBX domain for GLUT4
lang: en
text: UBX domain protein 9
lang: en
text: UBXD9
lang: en
text: UBXN9
GeneType: Name: gene with protein product
Name: transcription factor EB
Symbol: TFEB
Synonyms: lang: en
text: TCFEB
lang: en
text: bHLHe35
GeneType: Name: gene with protein product
Name: clathrin heavy chain
Symbol: CLTC
Synonyms: lang: en
text: Hc
GeneType: Name: gene with protein product
Name: splicing factor proline and glutamine rich
Symbol: SFPQ
Synonyms: lang: en
text: PPP1R140
lang: en
text: PSF
lang: en
text: Polypyrimidine tract binding protein associated
lang: en
text: polypyrimidine tract binding protein associated
lang: en
text: protein phosphatase 1, regulatory subunit 140
GeneType: Name: gene with protein product
Name: non-POU domain containing octamer binding
Symbol: NONO
Synonyms: lang: en
text: NMT55
lang: en
text: NRB54
lang: en
text: Nuclear RNA-binding protein, 54-kD
lang: en
text: P54
lang: en
text: P54NRB
lang: en
text: PPP1R114
lang: en
text: non-Pou domain-containing octamer (ATGCAAAT) binding protein
lang: en
text: protein phosphatase 1, regulatory subunit 114
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive myogenic arthrogryposis multiplex congenita (Orphanet code 319332)
Associated genes:
Name: spectrin repeat containing nuclear envelope protein 1
Symbol: SYNE1
Synonyms: lang: en
text: 8B
lang: en
text: ARCA1
lang: en
text: CPG2
lang: en
text: Enaptin
lang: en
text: KIAA0796
lang: en
text: MYNE1
lang: en
text: Nesp1
lang: en
text: Nesprin-1
lang: en
text: SCAR8
lang: en
text: SYNE-1B
lang: en
text: dJ45H2.2
lang: en
text: enaptin
lang: en
text: myocyte nuclear envelope protein 1
lang: en
text: nuclear envelope spectrin repeat-1
GeneType: Name: gene with protein product
Rare disease: Carney complex-trismus-pseudocamptodactyly syndrome (Orphanet code 319340)
Associated genes:
Name: myosin heavy chain 8
Symbol: MYH8
Synonyms: lang: en
text: MyHC-peri
lang: en
text: MyHC-pn
GeneType: Name: gene with protein product