TaoMedAI/RareMedData huggingface dataset:
Rare disease: Hereditary breast and/or ovarian cancer syndrome (Orphanet code 145)
Associated genes:
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: RAD51 recombinase
Symbol: RAD51
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 5
lang: en
text: BRCC5
lang: en
text: FANCR
lang: en
text: HsRad51
lang: en
text: HsT16930
GeneType: Name: gene with protein product
Name: BRCA2 DNA repair associated
Symbol: BRCA2
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 2
lang: en
text: BRCC2
lang: en
text: FAD
lang: en
text: FAD1
lang: en
text: XRCC11
GeneType: Name: gene with protein product
Name: BRCA1 interacting helicase 1
Symbol: BRIP1
Synonyms: lang: en
text: BACH1
lang: en
text: BRCA1 interacting protein 1
lang: en
text: BRCA1-associated C-terminal helicase
lang: en
text: BRCA1/BRCA2-associated helicase 1
lang: en
text: FANCJ
lang: en
text: FANCJ helicase
lang: en
text: OF
GeneType: Name: gene with protein product
Name: checkpoint kinase 2
Symbol: CHEK2
Synonyms: lang: en
text: CDS1
lang: en
text: CHK2
lang: en
text: HuCds1
lang: en
text: PP1425
lang: en
text: bA444G7
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: 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
Name: nibrin
Symbol: NBN
Synonyms: lang: en
text: AT-V1
lang: en
text: AT-V2
lang: en
text: ATV
GeneType: Name: gene with protein product
Name: partner and localizer of BRCA2
Symbol: PALB2
Synonyms: lang: en
text: FANCN
lang: en
text: FLJ21816
lang: en
text: Fanconi anemia, complementation group N
GeneType: Name: gene with protein product
Name: BRCA1 associated RING domain 1
Symbol: BARD1
GeneType: Name: gene with protein product
Name: RAD51 paralog C
Symbol: RAD51C
Synonyms: lang: en
text: FANCO
lang: en
text: RAD51L2
GeneType: Name: gene with protein product
Name: RAD50 double strand break repair protein
Symbol: RAD50
Synonyms: lang: en
text: RAD50-2
lang: en
text: hRad50
GeneType: Name: gene with protein product
Name: RAD51 paralog D
Symbol: RAD51D
Synonyms: lang: en
text: DNA repair protein RAD51 homolog 4
lang: en
text: HsTRAD
lang: en
text: R51H3
lang: en
text: Recombination repair protein
lang: en
text: Trad
lang: en
text: recombination repair protein
GeneType: Name: gene with protein product
Name: BRCA1 DNA repair associated
Symbol: BRCA1
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 1
lang: en
text: BRCC1
lang: en
text: FANCS
lang: en
text: Fanconi anemia, complementation group S
lang: en
text: PPP1R53
lang: en
text: RNF53
lang: en
text: protein phosphatase 1, regulatory subunit 53
GeneType: Name: gene with protein product
Rare disease: Prolactinoma (Orphanet code 2965)
Associated genes:
Name: cadherin related 23
Symbol: CDH23
Synonyms: lang: en
text: CDHR23
lang: en
text: cadherin-related family member 23
GeneType: Name: gene with protein product
Name: menin 1
Symbol: MEN1
Synonyms: lang: en
text: menin
GeneType: Name: gene with protein product
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
Rare disease: Lymphangioleiomyomatosis (Orphanet code 538)
Associated genes:
Name: TSC complex subunit 1
Symbol: TSC1
Synonyms: lang: en
text: KIAA0243
lang: en
text: LAM
lang: en
text: hamartin
GeneType: Name: gene with protein product
Name: TSC complex subunit 2
Symbol: TSC2
Synonyms: lang: en
text: LAM
lang: en
text: PPP1R160
lang: en
text: protein phosphatase 1, regulatory subunit 160
lang: en
text: tuberin
GeneType: Name: gene with protein product
Rare disease: Pterin-4 alpha-carbinolamine dehydratase deficiency (Orphanet code 1578)
Associated genes:
Name: pterin-4 alpha-carbinolamine dehydratase 1
Symbol: PCBD1
Synonyms: lang: en
text: PCD
lang: en
text: Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)
lang: en
text: dimerizing cofactor for HNF1
lang: en
text: pterin-4-alpha carbinolamine dehydratase
GeneType: Name: gene with protein product
Rare disease: Isolated succinate-CoQ reductase deficiency (Orphanet code 3208)
Associated genes:
Name: succinate dehydrogenase complex flavoprotein subunit A
Symbol: SDHA
Synonyms: lang: en
text: FP
lang: en
text: SDHF
lang: en
text: flavoprotein subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] flavoprotein subunit
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex iron sulfur subunit B
Symbol: SDHB
Synonyms: lang: en
text: iron-sulfur subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] iron-sulfur subunit
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex subunit D
Symbol: SDHD
Synonyms: lang: en
text: cybS
lang: en
text: small subunit of cytochrome b
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex assembly factor 1
Symbol: SDHAF1
Synonyms: lang: en
text: LYR motif containing 8
lang: en
text: LYRM8
GeneType: Name: gene with protein product
Rare disease: Rothmund-Thomson syndrome type 1 (Orphanet code 221008)
Associated genes:
Name: anaphase promoting complex subunit 1
Symbol: ANAPC1
Synonyms: lang: en
text: APC1
lang: en
text: MCPR
lang: en
text: TSG24
GeneType: Name: gene with protein product
Rare disease: Fumaric aciduria (Orphanet code 24)
Associated genes:
Name: fumarate hydratase
Symbol: FH
Synonyms: lang: en
text: fumarase
GeneType: Name: gene with protein product
Rare disease: Rothmund-Thomson syndrome type 2 (Orphanet code 221016)
Associated genes:
Name: RecQ like helicase 4
Symbol: RECQL4
Synonyms: lang: en
text: RecQ4
GeneType: Name: gene with protein product
Rare disease: Fatal infantile cytochrome C oxidase deficiency (Orphanet code 1561)
Associated genes:
Name: synthesis of cytochrome C oxidase 1
Symbol: SCO1
GeneType: Name: gene with protein product
Name: synthesis of cytochrome C oxidase 2
Symbol: SCO2
Synonyms: lang: en
text: SCO1L
GeneType: Name: gene with protein product
Name: cytochrome c oxidase assembly homolog COX15
Symbol: COX15
Synonyms: lang: en
text: CEMCOX2
GeneType: Name: gene with protein product
Name: cytochrome c oxidase assembly factor 5
Symbol: COA5
Synonyms: lang: en
text: FLJ27524
lang: en
text: MGC52110
lang: en
text: Pet191
GeneType: Name: gene with protein product
Name: cytochrome c oxidase assembly factor 6
Symbol: COA6
GeneType: Name: gene with protein product
Rare disease: Isolated complex III deficiency (Orphanet code 1460)
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
Name: mitochondrially encoded cytochrome b
Symbol: MT-CYB
Synonyms: lang: en
text: COB
lang: en
text: CYTB
lang: en
text: UQCR3
GeneType: Name: gene with protein product
Name: ubiquinol-cytochrome c reductase complex III subunit VII
Symbol: UQCRQ
Synonyms: lang: en
text: QCR8
lang: en
text: QP-C
lang: en
text: UQCR7
lang: en
text: complex III subunit 8
lang: en
text: ubiquinol-cytochrome c reductase, complex III subunit VII
GeneType: Name: gene with protein product
Name: ubiquinol-cytochrome c reductase binding protein
Symbol: UQCRB
Synonyms: lang: en
text: QCR7
lang: en
text: QP-C
lang: en
text: UQCR6
lang: en
text: cytochrome b-c1 complex subunit 7
lang: en
text: ubiquinol-cytochrome c reductase, complex III subunit VI
GeneType: Name: gene with protein product
Name: tetratricopeptide repeat domain 19
Symbol: TTC19
Synonyms: lang: en
text: FLJ20343
lang: en
text: MGC19520
lang: en
text: Tetratricopeptide repeat protein 19, mitochondrial
GeneType: Name: gene with protein product
Name: ubiquinol-cytochrome c reductase core protein 2
Symbol: UQCRC2
Synonyms: lang: en
text: QCR2
lang: en
text: UQCR2
GeneType: Name: gene with protein product
Name: cytochrome c1
Symbol: CYC1
Synonyms: lang: en
text: UQCR4
GeneType: Name: gene with protein product
Name: LYR motif containing 7
Symbol: LYRM7
Synonyms: lang: en
text: FLJ20796
lang: en
text: MZM1L
GeneType: Name: gene with protein product
Name: ubiquinol-cytochrome c reductase complex assembly factor 2
Symbol: UQCC2
Synonyms: lang: en
text: Cbp6
lang: en
text: M19
lang: en
text: MGC14833
lang: en
text: bA6B20.2
lang: en
text: cytochrome B protein synthesis 6 homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Name: ubiquinol-cytochrome c reductase complex assembly factor 3
Symbol: UQCC3
Synonyms: lang: en
text: UNQ655
GeneType: Name: gene with protein product
Name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Symbol: UQCRFS1
Synonyms: lang: en
text: RIP1
lang: en
text: RIS1
lang: en
text: RISP
lang: en
text: UQCR5
lang: en
text: cytochrome b-c1 complex subunit 5
GeneType: Name: gene with protein product
Rare disease: Paris-Trousseau thrombocytopenia (Orphanet code 851)
Associated genes:
Name: Fli-1 proto-oncogene, ETS transcription factor
Symbol: FLI1
Synonyms: lang: en
text: EWSR2
lang: en
text: FLI-1
lang: en
text: SIC-1
GeneType: Name: gene with protein product
Rare disease: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome (Orphanet code 221043)
Associated genes:
Name: FAM111 trypsin like peptidase B
Symbol: FAM111B
Synonyms: lang: en
text: CANP
GeneType: Name: gene with protein product
Rare disease: Poikiloderma with neutropenia (Orphanet code 221046)
Associated genes:
Name: U6 snRNA biogenesis phosphodiesterase 1
Symbol: USB1
Synonyms: lang: en
text: FLJ13154
lang: en
text: HVSL motif containing 1
lang: en
text: HVSL1
lang: en
text: Mpn1
lang: en
text: U six biogenesis 1
lang: en
text: mutated in poikiloderma with neutropenia protein 1
lang: en
text: poikiloderma with neutropenia
GeneType: Name: gene with protein product
Rare disease: Severe hereditary thrombophilia due to congenital protein C deficiency (Orphanet code 745)
Associated genes:
Name: protein C, inactivator of coagulation factors Va and VIIIa
Symbol: PROC
Synonyms: lang: en
text: coagulation factor XIV
lang: en
text: prepro-protein C
GeneType: Name: gene with protein product
Rare disease: Familial cerebral cavernous malformation (Orphanet code 221061)
Associated genes:
Name: CCM2 scaffold protein
Symbol: CCM2
Synonyms: lang: en
text: MGC4607
lang: en
text: OSM
lang: en
text: malcavernin
lang: en
text: osmosensing scaffold for MEKK3
GeneType: Name: gene with protein product
Name: KRIT1 ankyrin repeat containing
Symbol: KRIT1
Synonyms: lang: en
text: CAM
lang: en
text: Krev interaction trapped 1
GeneType: Name: gene with protein product
Name: programmed cell death 10
Symbol: PDCD10
Synonyms: lang: en
text: TFAR15
GeneType: Name: gene with protein product
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Rare disease: Glanzmann thrombasthenia (Orphanet code 849)
Associated genes:
Name: integrin subunit alpha 2b
Symbol: ITGA2B
Synonyms: lang: en
text: CD41
lang: en
text: CD41B
lang: en
text: GPIIb
lang: en
text: Integrin alpha-IIb
lang: en
text: PPP1R93
lang: en
text: platelet glycoprotein IIb of IIb/IIIa complex
lang: en
text: protein phosphatase 1, regulatory subunit 93
GeneType: Name: gene with protein product
Name: integrin subunit beta 3
Symbol: ITGB3
Synonyms: lang: en
text: CD61
lang: en
text: GPIIIa
lang: en
text: antigen CD61
lang: en
text: platelet glycoprotein IIIa
GeneType: Name: gene with protein product
Rare disease: Familial infantile bilateral striatal necrosis (Orphanet code 225154)
Associated genes:
Name: nucleoporin 54
Symbol: NUP54
GeneType: Name: gene with protein product
Name: adenosine deaminase RNA specific
Symbol: ADAR
Synonyms: lang: en
text: ADAR1
lang: en
text: DRADA
lang: en
text: Double-stranded RNA-specific adenosine deaminase
GeneType: Name: gene with protein product
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: nucleoporin 62
Symbol: NUP62
Synonyms: lang: en
text: DKFZp547L134
lang: en
text: FLJ20822
lang: en
text: FLJ43869
lang: en
text: IBSN
lang: en
text: MGC841
lang: en
text: SNDI
lang: en
text: nuclear pore glycoprotein p62
lang: en
text: p62
GeneType: Name: gene with protein product
Rare disease: TFR2-related hemochromatosis (Orphanet code 225123)
Associated genes:
Name: transferrin receptor 2
Symbol: TFR2
Synonyms: lang: en
text: HFE3
lang: en
text: TFRC2
GeneType: Name: gene with protein product
Rare disease: Fowler vasculopathy (Orphanet code 221126)
Associated genes:
Name: FLVCR choline and putative heme transporter 2
Symbol: FLVCR2
Synonyms: lang: en
text: CCT
lang: en
text: FLJ20371
lang: en
text: MFSD7C
lang: en
text: SLC49A2
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet code 221139)
Associated genes:
Name: kinetochore localized astrin (SPAG5) binding protein
Symbol: KNSTRN
Synonyms: lang: en
text: FLJ14502
lang: en
text: SKAP
lang: en
text: TRAF4 associated factor 1
lang: en
text: TRAF4AF1
lang: en
text: kinastrin
lang: en
text: kinetochore-localized astrin-binding protein
lang: en
text: small kinetochore-associated protein
GeneType: Name: gene with protein product
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Symbol: PIK3CD
Synonyms: lang: en
text: p110D
lang: en
text: phosphatidylinositol 3-kinase, catalytic, delta polypeptide
lang: en
text: phosphoinositide-3-kinase C
GeneType: Name: gene with protein product
Rare disease: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (Orphanet code 221145)
Associated genes:
Name: latent transforming growth factor beta binding protein 4
Symbol: LTBP4
Synonyms: lang: en
text: FLJ46318
lang: en
text: FLJ90018
lang: en
text: LTBP-4
lang: en
text: LTBP-4L
GeneType: Name: gene with protein product
Name: latent transforming growth factor beta binding protein 4
Symbol: LTBP4
Synonyms: lang: en
text: FLJ46318
lang: en
text: FLJ90018
lang: en
text: LTBP-4
lang: en
text: LTBP-4L
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to CORO1A deficiency (Orphanet code 228003)
Associated genes:
Name: coronin 1A
Symbol: CORO1A
Synonyms: lang: en
text: Clabp TACO
lang: en
text: HCORO1
lang: en
text: coronin-1
lang: en
text: p57
GeneType: Name: gene with protein product
Rare disease: Idiopathic CD4 lymphocytopenia (Orphanet code 228000)
Associated genes:
Name: unc-119 lipid binding chaperone
Symbol: UNC119
Synonyms: lang: en
text: HRG4
lang: en
text: POC7
lang: en
text: POC7 centriolar protein homolog A (Chlamydomonas)
lang: en
text: POC7A
GeneType: Name: gene with protein product
Rare disease: Testicular seminomatous germ cell tumor (Orphanet code 842)
Associated genes:
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
Rare disease: Autosomal recessive optic atrophy, OPA7 type (Orphanet code 227976)
Associated genes:
Name: transmembrane protein 126A
Symbol: TMEM126A
Synonyms: lang: en
text: DKFZp586C1924
lang: en
text: OPA7
GeneType: Name: gene with protein product
Rare disease: Fundus albipunctatus (Orphanet code 227796)
Associated genes:
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Name: retinol dehydrogenase 5
Symbol: RDH5
Synonyms: lang: en
text: HSD17B9
lang: en
text: SDR9C5
lang: en
text: short chain dehydrogenase/reductase family 9C, member 5
GeneType: Name: gene with protein product
Name: retinaldehyde binding protein 1
Symbol: RLBP1
Synonyms: lang: en
text: CRALBP
GeneType: Name: gene with protein product
Rare disease: Langerhans cell histiocytosis (Orphanet code 389)
Associated genes:
Name: mitogen-activated protein kinase kinase 1
Symbol: MAP2K1
Synonyms: lang: en
text: MAP kinase kinase 1
lang: en
text: MAPK/ERK kinase 1
lang: en
text: MAPKK1
lang: en
text: MEK1
lang: en
text: MKK1
lang: en
text: dual specificity mitogen-activated protein kinase kinase 1
GeneType: Name: gene with protein product
Name: NRAS proto-oncogene, GTPase
Symbol: NRAS
Synonyms: lang: en
text: N-ras
GeneType: Name: gene with protein product
Name: B-Raf proto-oncogene, serine/threonine kinase
Symbol: BRAF
Synonyms: lang: en
text: BRAF-1
lang: en
text: BRAF1
GeneType: Name: gene with protein product
Rare disease: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome (Orphanet code 228012)
Associated genes:
Name: myosin VI
Symbol: MYO6
Synonyms: lang: en
text: KIAA0389
GeneType: Name: gene with protein product
Rare disease: Burkitt lymphoma (Orphanet code 543)
Associated genes:
Name: MYC proto-oncogene, bHLH transcription factor
Symbol: MYC
Synonyms: lang: en
text: MYCC
lang: en
text: bHLHe39
lang: en
text: c-Myc
GeneType: Name: gene with protein product
Rare disease: Skeletal Ewing sarcoma (Orphanet code 319)
Associated genes:
Name: ETS transcription factor ERG
Symbol: ERG
Synonyms: lang: en
text: ETS-related gene
lang: en
text: TMPRSS2-ERG prostate cancer specific
lang: en
text: erg-3
lang: en
text: p55
lang: en
text: transcriptional regulator ERG (transforming protein ERG)
lang: en
text: v-ets erythroblastosis virus E26 oncogene like
GeneType: Name: gene with protein product
Name: ETS variant transcription factor 1
Symbol: ETV1
Synonyms: lang: en
text: ER81
GeneType: Name: gene with protein product
Name: EWS RNA binding protein 1
Symbol: EWSR1
Synonyms: lang: en
text: EWS
GeneType: Name: gene with protein product
Name: Fli-1 proto-oncogene, ETS transcription factor
Symbol: FLI1
Synonyms: lang: en
text: EWSR2
lang: en
text: FLI-1
lang: en
text: SIC-1
GeneType: Name: gene with protein product
Name: ETS variant transcription factor 4
Symbol: ETV4
Synonyms: lang: en
text: E1A enhancer binding protein
lang: en
text: E1A-F
lang: en
text: E1AF
lang: en
text: PEA3
GeneType: Name: gene with protein product
Rare disease: Hereditary breast cancer (Orphanet code 227535)
Associated genes:
Name: N-ribosyldihydronicotinamide:quinone dehydrogenase 2
Symbol: NQO2
Synonyms: lang: en
text: DHQV
lang: en
text: DIA6
lang: en
text: NRH:quinone oxidoreductase 2
lang: en
text: QR2
lang: en
text: quinone reductase 2
GeneType: Name: gene with protein product
Name: ATM serine/threonine kinase
Symbol: ATM
Synonyms: lang: en
text: TEL1
lang: en
text: TEL1, telomere maintenance 1, homolog (S. cerevisiae)
lang: en
text: TELO1
GeneType: Name: gene with protein product
Name: cadherin 1
Symbol: CDH1
Synonyms: lang: en
text: CD324
lang: en
text: E-Cadherin
lang: en
text: uvomorulin
GeneType: Name: gene with protein product
Name: BRCA1 DNA repair associated
Symbol: BRCA1
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 1
lang: en
text: BRCC1
lang: en
text: FANCS
lang: en
text: Fanconi anemia, complementation group S
lang: en
text: PPP1R53
lang: en
text: RNF53
lang: en
text: protein phosphatase 1, regulatory subunit 53
GeneType: Name: gene with protein product
Name: BRCA2 DNA repair associated
Symbol: BRCA2
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 2
lang: en
text: BRCC2
lang: en
text: FAD
lang: en
text: FAD1
lang: en
text: XRCC11
GeneType: Name: gene with protein product
Name: partner and localizer of BRCA2
Symbol: PALB2
Synonyms: lang: en
text: FANCN
lang: en
text: FLJ21816
lang: en
text: Fanconi anemia, complementation group N
GeneType: Name: gene with protein product
Name: X-ray repair cross complementing 2
Symbol: XRCC2
Synonyms: lang: en
text: DNA repair protein XRCC2
lang: en
text: FANCU
lang: en
text: RAD51-like
GeneType: Name: gene with protein product
Name: killin, p53 regulated DNA replication inhibitor
Symbol: KLLN
Synonyms: lang: en
text: killin
GeneType: Name: gene with protein product
Name: RAD54 like
Symbol: RAD54L
Synonyms: lang: en
text: RAD54A
lang: en
text: hHR54
lang: en
text: hRAD54
GeneType: Name: gene with protein product
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
Rare disease: Osteosarcoma (Orphanet code 668)
Associated genes:
Name: checkpoint kinase 2
Symbol: CHEK2
Synonyms: lang: en
text: CDS1
lang: en
text: CHK2
lang: en
text: HuCds1
lang: en
text: PP1425
lang: en
text: bA444G7
GeneType: Name: gene with protein product
Name: RB transcriptional corepressor 1
Symbol: RB1
Synonyms: lang: en
text: PPP1R130
lang: en
text: RB
lang: en
text: prepro-retinoblastoma-associated protein
lang: en
text: protein phosphatase 1, regulatory subunit 130
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: 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: Multiple system atrophy, cerebellar type (Orphanet code 227510)
Associated genes:
Name: coenzyme Q2, polyprenyltransferase
Symbol: COQ2
Synonyms: lang: en
text: 4-hydroxybenzoate polyprenyltransferase
lang: en
text: CL640
lang: en
text: FLJ26072
GeneType: Name: gene with protein product
Rare disease: Fibrosarcoma (Orphanet code 2030)
Associated genes:
Name: ETS variant transcription factor 6
Symbol: ETV6
Synonyms: lang: en
text: TEL
lang: en
text: TEL oncogene
GeneType: Name: gene with protein product
Name: neurotrophic receptor tyrosine kinase 3
Symbol: NTRK3
Synonyms: lang: en
text: TRKC
GeneType: Name: gene with protein product
Rare disease: Solitary fibrous tumor (Orphanet code 2126)
Associated genes:
Name: signal transducer and activator of transcription 6
Symbol: STAT6
Synonyms: lang: en
text: D12S1644
lang: en
text: IL-4-STAT
GeneType: Name: gene with protein product
Name: NGFI-A binding protein 2
Symbol: NAB2
Synonyms: lang: en
text: EGR1 binding protein 2
lang: en
text: MADER
GeneType: Name: gene with protein product
Rare disease: Pseudoxanthoma elasticum (Orphanet code 758)
Associated genes:
Name: ATP binding cassette subfamily C member 6
Symbol: ABCC6
Synonyms: lang: en
text: EST349056
lang: en
text: MLP1
lang: en
text: MRP6
lang: en
text: URG7
GeneType: Name: gene with protein product
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: Hyperprolinemia type 1 (Orphanet code 419)
Associated genes:
Name: proline dehydrogenase 1
Symbol: PRODH
Synonyms: lang: en
text: HSPOX2
lang: en
text: PIG6
lang: en
text: POX
lang: en
text: PRODH1
lang: en
text: PRODH2
lang: en
text: TP53I6
lang: en
text: p53 Inducible gene 6
lang: en
text: proline oxidase
GeneType: Name: gene with protein product