TaoMedAI/RareMedData huggingface dataset:
Rare disease: Autosomal recessive Stickler syndrome (Orphanet code 250984)
Associated genes:
Name: collagen type IX alpha 1 chain
Symbol: COL9A1
GeneType: Name: gene with protein product
Name: collagen type IX alpha 2 chain
Symbol: COL9A2
Synonyms: lang: en
text: MED
GeneType: Name: gene with protein product
Name: collagen type IX alpha 3 chain
Symbol: COL9A3
Synonyms: lang: en
text: DJ885L7.4.1
lang: en
text: EDM3
lang: en
text: FLJ90759
lang: en
text: IDD
lang: en
text: MED
lang: en
text: collagen type IX proteoglycan
GeneType: Name: gene with protein product
Rare disease: AICA-ribosiduria (Orphanet code 250977)
Associated genes:
Name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Symbol: ATIC
Synonyms: lang: en
text: AICARFT
lang: en
text: IMPCHASE
lang: en
text: PURH
lang: en
text: phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase
GeneType: Name: gene with protein product
Rare disease: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome (Orphanet code 2250)
Associated genes:
Name: structural maintenance of chromosomes flexible hinge domain containing 1
Symbol: SMCHD1
Synonyms: lang: en
text: FSHD2
lang: en
text: KIAA0650
GeneType: Name: gene with protein product
Rare disease: Isolated aniridia (Orphanet code 250923)
Associated genes:
Name: paired box 6
Symbol: PAX6
Synonyms: lang: en
text: AN
lang: en
text: Aniridia 1
lang: en
text: Aniridia 2
lang: en
text: D11S812E
lang: en
text: WAGR
lang: en
text: aniridia, keratitis
GeneType: Name: gene with protein product
Name: tripartite motif containing 44
Symbol: TRIM44
Synonyms: lang: en
text: DIPB
lang: en
text: MC7
GeneType: Name: gene with protein product
Name: forkhead box C1
Symbol: FOXC1
Synonyms: lang: en
text: ARA
lang: en
text: FREAC3
lang: en
text: IGDA
lang: en
text: IHG1
GeneType: Name: gene with protein product
Rare disease: Polymicrogyria with optic nerve hypoplasia (Orphanet code 250972)
Associated genes:
Name: tubulin alpha 8
Symbol: TUBA8
GeneType: Name: gene with protein product
Rare disease: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome (Orphanet code 2255)
Associated genes:
Name: GATA binding protein 6
Symbol: GATA6
GeneType: Name: gene with protein product
Rare disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome (Orphanet code 251380)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Name: BCL11 transcription factor A
Symbol: BCL11A
Synonyms: lang: en
text: BCL11A-L
lang: en
text: BCL11A-S
lang: en
text: BCL11A-XL
lang: en
text: CTIP1
lang: en
text: HBFQTL5
lang: en
text: SMARCM1
lang: en
text: ZNF856
GeneType: Name: gene with protein product
Name: hemoglobin subunit gamma 1
Symbol: HBG1
Synonyms: lang: en
text: HBG-T2
lang: en
text: fetal hemoglobin F subunit gamma 1
GeneType: Name: gene with protein product
Name: hemoglobin subunit gamma 2
Symbol: HBG2
Synonyms: lang: en
text: HBG-T1
lang: en
text: fetal hemoglobin F subunit gamma 2
GeneType: Name: gene with protein product
Name: KLF transcription factor 1
Symbol: KLF1
Synonyms: lang: en
text: EKLF
lang: en
text: erythroid Kruppel-like factor
GeneType: Name: gene with protein product
Rare disease: CK syndrome (Orphanet code 251383)
Associated genes:
Name: NAD(P) dependent steroid dehydrogenase-like
Symbol: NSDHL
Synonyms: lang: en
text: H105e3
lang: en
text: SDR31E1
lang: en
text: XAP104
lang: en
text: short chain dehydrogenase/reductase family 31E, member 1
GeneType: Name: gene with protein product
Rare disease: Sickle cell-hemoglobin D disease syndrome (Orphanet code 251370)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Sickle cell-hemoglobin E disease syndrome (Orphanet code 251375)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Sickle cell-beta-thalassemia disease syndrome (Orphanet code 251359)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Sickle cell-hemoglobin C disease syndrome (Orphanet code 251365)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Juberg-Hayward syndrome (Orphanet code 2319)
Associated genes:
Name: establishment of sister chromatid cohesion N-acetyltransferase 2
Symbol: ESCO2
Synonyms: lang: en
text: EFO2
GeneType: Name: gene with protein product
Rare disease: Hyperzincemia and hypercalprotectinemia (Orphanet code 251523)
Associated genes:
Name: proline-serine-threonine phosphatase interacting protein 1
Symbol: PSTPIP1
Synonyms: lang: en
text: CD2 antigen-binding protein 1
lang: en
text: CD2 cytoplasmic tail-binding protein
lang: en
text: CD2BP1
lang: en
text: CD2BP1L
lang: en
text: CD2BP1S
lang: en
text: H-PIP
lang: en
text: PAPAS
lang: en
text: PEST phosphatase-interacting protein 1
lang: en
text: PSTPIP
GeneType: Name: gene with protein product
Rare disease: Johanson-Blizzard syndrome (Orphanet code 2315)
Associated genes:
Name: ubiquitin protein ligase E3 component n-recognin 1
Symbol: UBR1
GeneType: Name: gene with protein product
Rare disease: 46,XY partial gonadal dysgenesis (Orphanet code 251510)
Associated genes:
Name: DEAH-box helicase 37
Symbol: DHX37
Synonyms: lang: en
text: Dhr1
lang: en
text: KIAA1517
lang: en
text: MGC2695
lang: en
text: MGC4322
GeneType: Name: gene with protein product
Name: WT1 transcription factor
Symbol: WT1
Synonyms: lang: en
text: AWT1
lang: en
text: NPHS4
lang: en
text: WAGR
lang: en
text: WIT-2
lang: en
text: WT-1
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 9
Symbol: SOX9
Synonyms: lang: en
text: SRA1
GeneType: Name: gene with protein product
Name: sex determining region Y
Symbol: SRY
Synonyms: lang: en
text: TDF
lang: en
text: testis-determining factor
GeneType: Name: gene with protein product
Name: WW domain containing oxidoreductase
Symbol: WWOX
Synonyms: lang: en
text: FOR
lang: en
text: SDR41C1
lang: en
text: WOX1
lang: en
text: short chain dehydrogenase/reductase family 41C, member 1
GeneType: Name: gene with protein product
Name: zinc finger protein, FOG family member 2
Symbol: ZFPM2
Synonyms: lang: en
text: FOG2
lang: en
text: ZC2HC11B
lang: en
text: ZNF89B
lang: en
text: hFOG-2
GeneType: Name: gene with protein product
Name: GATA binding protein 4
Symbol: GATA4
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 0 group B member 1
Symbol: NR0B1
Synonyms: lang: en
text: AHCH
lang: en
text: DAX1
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 5 group A member 1
Symbol: NR5A1
Synonyms: lang: en
text: AD4BP
lang: en
text: ELP
lang: en
text: FTZ1
lang: en
text: SF-1
lang: en
text: SF1
lang: en
text: hSF-1
lang: en
text: steroidogenic factor 1
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase kinase kinase 1
Symbol: MAP3K1
Synonyms: lang: en
text: MAPKKK1
lang: en
text: MEKK
GeneType: Name: gene with protein product
Name: vesicle associated membrane protein 7
Symbol: VAMP7
Synonyms: lang: en
text: TI-VAMP
lang: en
text: VAMP-7
GeneType: Name: gene with protein product
Rare disease: Pachyonychia congenita (Orphanet code 2309)
Associated genes:
Name: keratin 16
Symbol: KRT16
Synonyms: lang: en
text: NEPPK
lang: en
text: focal non-epidermolytic palmoplantar keratoderma
GeneType: Name: gene with protein product
Name: keratin 17
Symbol: KRT17
GeneType: Name: gene with protein product
Name: keratin 6A
Symbol: KRT6A
Synonyms: lang: en
text: CK6C
lang: en
text: CK6D
lang: en
text: K6C
lang: en
text: K6D
GeneType: Name: gene with protein product
Name: keratin 6B
Symbol: KRT6B
GeneType: Name: gene with protein product
Rare disease: Localized junctional epidermolysis bullosa (Orphanet code 251393)
Associated genes:
Name: collagen type XVII alpha 1 chain
Symbol: COL17A1
Synonyms: lang: en
text: BP180
GeneType: Name: gene with protein product
Name: integrin subunit beta 4
Symbol: ITGB4
Synonyms: lang: en
text: CD104
GeneType: Name: gene with protein product
Rare disease: IVIC syndrome (Orphanet code 2307)
Associated genes:
Name: spalt like transcription factor 4
Symbol: SALL4
Synonyms: lang: en
text: ZNF797
lang: en
text: dJ1112F19.1
GeneType: Name: gene with protein product
Rare disease: Pigmented paravenous retinochoroidal atrophy (Orphanet code 251295)
Associated genes:
Name: crumbs cell polarity complex component 1
Symbol: CRB1
Synonyms: lang: en
text: LCA8
GeneType: Name: gene with protein product
Rare disease: Parietal foramina with clavicular hypoplasia (Orphanet code 251290)
Associated genes:
Name: msh homeobox 2
Symbol: MSX2
Synonyms: lang: en
text: CRS2
lang: en
text: FPP
lang: en
text: HOX8
lang: en
text: MSH
lang: en
text: PFM
lang: en
text: craniosynostosis, type 2
GeneType: Name: gene with protein product
Rare disease: Benign concentric annular macular dystrophy (Orphanet code 251287)
Associated genes:
Name: interphotoreceptor matrix proteoglycan 1
Symbol: IMPG1
Synonyms: lang: en
text: GP147
lang: en
text: IPM150
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic ataxia type 1 (Orphanet code 251282)
Associated genes:
Name: vesicle associated membrane protein 1
Symbol: VAMP1
Synonyms: lang: en
text: VAMP-1
GeneType: Name: gene with protein product
Rare disease: Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome (Orphanet code 251279)
Associated genes:
Name: membrane frizzled-related protein
Symbol: MFRP
Synonyms: lang: en
text: C1QTNF5
lang: en
text: C1q and TNF related 5
lang: en
text: FLJ30570
lang: en
text: NNO2
lang: en
text: membrane-type frizzled-related protein
lang: en
text: rd6
GeneType: Name: gene with protein product
Rare disease: Familial hyperaldosteronism type III (Orphanet code 251274)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 5
Symbol: KCNJ5
Synonyms: lang: en
text: CIR
lang: en
text: G protein-activated inward rectifier potassium channel 4
lang: en
text: GIRK4
lang: en
text: KATP1
lang: en
text: Kir3.4
lang: en
text: LQT13
GeneType: Name: gene with protein product
Rare disease: Familial osteochondritis dissecans (Orphanet code 251262)
Associated genes:
Name: aggrecan
Symbol: ACAN
Synonyms: lang: en
text: CSPGCP
lang: en
text: aggrecan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Ataxia-telangiectasia-like disorder (Orphanet code 251347)
Associated genes:
Name: MRE11 homolog, double strand break repair nuclease
Symbol: MRE11
Synonyms: lang: en
text: AT-like disease
lang: en
text: ATLD
GeneType: Name: gene with protein product
Rare disease: Neuronal intranuclear inclusion disease (Orphanet code 2289)
Associated genes:
Name: notch 2 N-terminal like C
Symbol: NOTCH2NLC
GeneType: Name: gene with protein product
Rare disease: Microvillus inclusion disease (Orphanet code 2290)
Associated genes:
Name: myosin VB
Symbol: MYO5B
Synonyms: lang: en
text: KIAA1119
GeneType: Name: gene with protein product
Name: syntaxin 3
Symbol: STX3
GeneType: Name: gene with protein product
Rare disease: Lethal infantile mitochondrial myopathy (Orphanet code 254857)
Associated genes:
Name: mitochondrially encoded tRNA-Thr (ACN)
Symbol: MT-TT
Synonyms: lang: en
text: trnT
GeneType: Name: Non-coding RNA
Rare disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (Orphanet code 254864)
Associated genes:
Name: tRNA mitochondrial 2-thiouridylase
Symbol: TRMU
Synonyms: lang: en
text: FLJ10140
lang: en
text: MTO2
lang: en
text: MTU1
lang: en
text: mitochondrial tRNA-specific 2-thiouridylase 1
GeneType: Name: gene with protein product
Name: mitochondrially encoded tRNA-Glu (GAA/G)
Symbol: MT-TE
Synonyms: lang: en
text: trnE
GeneType: Name: Non-coding RNA
Rare disease: Keipert syndrome (Orphanet code 2662)
Associated genes:
Name: glypican 4
Symbol: GPC4
Synonyms: lang: en
text: K-glypican
lang: en
text: glypican proteoglycan 4
GeneType: Name: gene with protein product
Rare disease: Renal coloboma syndrome (Orphanet code 1475)
Associated genes:
Name: paired box 2
Symbol: PAX2
Synonyms: lang: en
text: PAX-2
GeneType: Name: gene with protein product
Rare disease: Pierson syndrome (Orphanet code 2670)
Associated genes:
Name: laminin subunit beta 2
Symbol: LAMB2
Synonyms: lang: en
text: NPHS5
lang: en
text: laminin S
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 7 (Orphanet code 254930)
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: Combined oxidative phosphorylation defect type 4 (Orphanet code 254925)
Associated genes:
Name: Tu translation elongation factor, mitochondrial
Symbol: TUFM
Synonyms: lang: en
text: EF-TuMT
lang: en
text: EFTU
lang: en
text: EFTu
GeneType: Name: gene with protein product
Rare disease: Arthrogryposis-renal dysfunction-cholestasis syndrome (Orphanet code 2697)
Associated genes:
Name: VPS33B late endosome and lysosome associated
Symbol: VPS33B
Synonyms: lang: en
text: FLJ14848
GeneType: Name: gene with protein product
Name: VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
Symbol: VIPAS39
Synonyms: lang: en
text: SPE-39
lang: en
text: SPE39
lang: en
text: Spermatogenesis-defective protein 39 homolog
lang: en
text: VIPAR
lang: en
text: VPS16B
lang: en
text: VPS33B interacting protein, apical-basolateral polarity regulator
lang: en
text: hSPE-39
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 2 (Orphanet code 254920)
Associated genes:
Name: mitochondrial ribosomal protein S16
Symbol: MRPS16
Synonyms: lang: en
text: CGI-132
lang: en
text: bS16m
GeneType: Name: gene with protein product
Rare disease: Isolated ATP synthase deficiency (Orphanet code 254913)
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
Name: ATP synthase membrane subunit k
Symbol: ATP5MK
Synonyms: lang: en
text: AGP
lang: en
text: DAPIT
lang: en
text: Diabetes Associated Protein in Insulin-sensitive Tissues
lang: en
text: MGC14697
lang: en
text: bA792D24.4
GeneType: Name: gene with protein product
Name: mitochondrially encoded ATP synthase membrane subunit 8
Symbol: MT-ATP8
Synonyms: lang: en
text: A6L
lang: en
text: ATP8
lang: en
text: URFA6L
lang: en
text: mitochondrially encoded ATP synthase membrane subunit A6L
GeneType: Name: gene with protein product
Name: ATP synthase mitochondrial F1 complex assembly factor 2
Symbol: ATPAF2
Synonyms: lang: en
text: ATP12
lang: en
text: Atp12p
lang: en
text: LP3663
lang: en
text: MGC29736
GeneType: Name: gene with protein product
Name: ATP synthase F1 subunit epsilon
Symbol: ATP5F1E
GeneType: Name: gene with protein product
Name: ATP synthase F1 subunit alpha
Symbol: ATP5F1A
Synonyms: lang: en
text: ATP5A
lang: en
text: OMR
lang: en
text: ORM
lang: en
text: hATP1
GeneType: Name: gene with protein product
Name: ATP synthase F1 subunit delta
Symbol: ATP5F1D
GeneType: Name: gene with protein product
Rare disease: Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet code 255182)
Associated genes:
Name: pyruvate dehydrogenase complex component X
Symbol: PDHX
Synonyms: lang: en
text: DLDBP
lang: en
text: E3BP
lang: en
text: OPDX
lang: en
text: PDX1
lang: en
text: proX
GeneType: Name: gene with protein product
Rare disease: Noonan syndrome-like disorder with loose anagen hair (Orphanet code 2701)
Associated genes:
Name: protein phosphatase 1 catalytic subunit beta
Symbol: PPP1CB
Synonyms: lang: en
text: MP
lang: en
text: PP-1B
lang: en
text: PP1B
lang: en
text: PP1beta
lang: en
text: PP1c
lang: en
text: PPP1beta
lang: en
text: myosin phosphatase
GeneType: Name: gene with protein product
Name: SHOC2 leucine rich repeat scaffold protein
Symbol: SHOC2
Synonyms: lang: en
text: KIAA0862
lang: en
text: SOC-2
lang: en
text: SOC2
lang: en
text: SUR-8
lang: en
text: SUR8
GeneType: Name: gene with protein product
Rare disease: Pyruvate dehydrogenase E1-beta deficiency (Orphanet code 255138)
Associated genes:
Name: pyruvate dehydrogenase E1 subunit beta
Symbol: PDHB
Synonyms: lang: en
text: E1beta
lang: en
text: PDHE1B
GeneType: Name: gene with protein product
Rare disease: Adult-onset autosomal recessive sideroblastic anemia (Orphanet code 255132)
Associated genes:
Name: glutaredoxin 5
Symbol: GLRX5
Synonyms: lang: en
text: GRX5
lang: en
text: PR01238
GeneType: Name: gene with protein product
Rare disease: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome (Orphanet code 2698)
Associated genes:
Name: gap junction protein beta 2
Symbol: GJB2
Synonyms: lang: en
text: CX26
lang: en
text: NSRD1
lang: en
text: connexin 26
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive progressive external ophthalmoplegia (Orphanet code 254886)
Associated genes:
Name: DNA polymerase gamma, catalytic subunit
Symbol: POLG
Synonyms: lang: en
text: POLG1
lang: en
text: POLGA
GeneType: Name: gene with protein product
Name: thymidine kinase 2
Symbol: TK2
Synonyms: lang: en
text: SCA31
lang: en
text: mitochondrial thymidine kinase
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia with epilepsy (Orphanet code 254881)
Associated genes:
Name: DNA polymerase gamma, catalytic subunit
Symbol: POLG
Synonyms: lang: en
text: POLG1
lang: en
text: POLGA
GeneType: Name: gene with protein product
Rare disease: Mitochondrial DNA depletion syndrome, myopathic form (Orphanet code 254875)
Associated genes:
Name: thymidine kinase 2
Symbol: TK2
Synonyms: lang: en
text: SCA31
lang: en
text: mitochondrial thymidine kinase
GeneType: Name: gene with protein product
Rare disease: Isolated cytochrome C oxidase deficiency (Orphanet code 254905)
Associated genes:
Name: cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
Symbol: COX10
Synonyms: lang: en
text: heme O synthase
lang: en
text: protoheme IX farnesyltransferase, mitochondrial
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase I
Symbol: MT-CO1
Synonyms: lang: en
text: COI
lang: en
text: COX1
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase II
Symbol: MT-CO2
Synonyms: lang: en
text: CO2
lang: en
text: COX2
GeneType: Name: gene with protein product
Name: mitochondrially encoded cytochrome c oxidase III
Symbol: MT-CO3
Synonyms: lang: en
text: CO3
lang: en
text: COIII
lang: en
text: COX3
GeneType: Name: gene with protein product
Name: cytochrome c oxidase subunit 6B1
Symbol: COX6B1
Synonyms: lang: en
text: COXG
GeneType: Name: gene with protein product
Name: cytochrome c oxidase assembly factor COX14
Symbol: COX14
Synonyms: lang: en
text: MGC14288
GeneType: Name: gene with protein product
Name: cytochrome c oxidase assembly factor COX16
Symbol: COX16
Synonyms: lang: en
text: HSPC203
GeneType: Name: gene with protein product
Name: cytochrome c oxidase subunit 4I1
Symbol: COX4I1
Synonyms: lang: en
text: COX4-1
lang: en
text: COXIV
lang: en
text: COXIV-1
GeneType: Name: gene with protein product
Name: cytochrome c oxidase assembly factor COX20
Symbol: COX20
Synonyms: lang: en
text: FLJ43269
GeneType: Name: gene with protein product
Name: cytochrome c oxidase assembly factor 3
Symbol: COA3
Synonyms: lang: en
text: COX25
lang: en
text: HSPC009
lang: en
text: MITRAC12
lang: en
text: hCOA3
GeneType: Name: gene with protein product
Name: cytochrome c oxidase subunit 8A
Symbol: COX8A
Synonyms: lang: en
text: COX
lang: en
text: COX8-2
lang: en
text: COX8L
lang: en
text: VIII
lang: en
text: VIII-L
GeneType: Name: gene with protein product
Name: cytochrome c oxidase subunit 6A2
Symbol: COX6A2
Synonyms: lang: en
text: COX6AH
lang: en
text: COXVIAH
lang: en
text: COXVIa-M
GeneType: Name: gene with protein product
Name: PET117 cytochrome c oxidase chaperone
Symbol: PET117
Synonyms: lang: en
text: CSRP2BP
GeneType: Name: gene with protein product
Name: cytochrome c oxidase subunit 5A
Symbol: COX5A
Synonyms: lang: en
text: COX-VA
lang: en
text: Cytochrome c oxidase subunit 5A, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Renal tubulopathy-encephalopathy-liver failure syndrome (Orphanet code 254902)
Associated genes:
Name: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Symbol: BCS1L
Synonyms: lang: en
text: BCS
lang: en
text: BJS
lang: en
text: Bjornstad syndrome
lang: en
text: GRACILE syndrome
lang: en
text: Hs.6719
lang: en
text: h-BCS
GeneType: Name: gene with protein product
Rare disease: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome (Orphanet code 254898)
Associated genes:
Name: decaprenyl diphosphate synthase subunit 1
Symbol: PDSS1
Synonyms: lang: en
text: COQ1
lang: en
text: COQ1A
lang: en
text: TPT
lang: en
text: coenzyme Q1 homolog (yeast)
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant progressive external ophthalmoplegia (Orphanet code 254892)
Associated genes:
Name: DNA polymerase gamma, catalytic subunit
Symbol: POLG
Synonyms: lang: en
text: POLG1
lang: en
text: POLGA
GeneType: Name: gene with protein product
Name: DNA polymerase gamma 2, accessory subunit
Symbol: POLG2
Synonyms: lang: en
text: HP55
lang: en
text: MTPOLB
GeneType: Name: gene with protein product
Name: solute carrier family 25 member 4
Symbol: SLC25A4
Synonyms: lang: en
text: AAC1
lang: en
text: ADP/ATP carrier 1
lang: en
text: ADP/ATP translocase 1
lang: en
text: T1
GeneType: Name: gene with protein product
Name: twinkle mtDNA helicase
Symbol: TWNK
Synonyms: lang: en
text: FLJ21832
lang: en
text: PEO
lang: en
text: PEO1
lang: en
text: T7 helicase-related protein with intramitochondrial nucleoid localization
lang: en
text: TWINKLE
lang: en
text: TWINL
GeneType: Name: gene with protein product
Name: ribonucleotide reductase regulatory TP53 inducible subunit M2B
Symbol: RRM2B
Synonyms: lang: en
text: p53R2
GeneType: Name: gene with protein product
Rare disease: Oculofaciocardiodental syndrome (Orphanet code 2712)
Associated genes:
Name: BCL6 corepressor
Symbol: BCOR
Synonyms: lang: en
text: BCL-6 coreceptor
lang: en
text: BCL6 interacting corepressor
lang: en
text: FLJ20285
lang: en
text: KIAA1575
GeneType: Name: gene with protein product
Rare disease: Oculotrichoanal syndrome (Orphanet code 2717)
Associated genes:
Name: FRAS1 related extracellular matrix 1
Symbol: FREM1
Synonyms: lang: en
text: C9orf143
lang: en
text: C9orf145
lang: en
text: DKFZp686M16108
lang: en
text: FLJ25461
lang: en
text: TILRR
GeneType: Name: gene with protein product
Rare disease: Urofacial syndrome (Orphanet code 2704)
Associated genes:
Name: heparanase 2 (inactive)
Symbol: HPSE2
Synonyms: lang: en
text: HPA2
lang: en
text: HPR2
GeneType: Name: gene with protein product
Name: leucine rich repeats and immunoglobulin like domains 2
Symbol: LRIG2
Synonyms: lang: en
text: KIAA0806
GeneType: Name: gene with protein product