TaoMedAI/RareMedData huggingface dataset:
Rare disease: Congenital stationary night blindness (Orphanet code 215)
Associated genes:
Name: rhodopsin
Symbol: RHO
Synonyms: lang: en
text: CSNBAD1
lang: en
text: OPN2
lang: en
text: opsin 2, rod pigment
GeneType: Name: gene with protein product
Name: S-antigen visual arrestin
Symbol: SAG
Synonyms: lang: en
text: ARRESTIN
lang: en
text: RP47
lang: en
text: arrestin 1
lang: en
text: rod arrestin
GeneType: Name: gene with protein product
Name: calcium binding protein 4
Symbol: CABP4
Synonyms: lang: en
text: CSNB2B
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 F
Symbol: CACNA1F
Synonyms: lang: en
text: CORDX3
lang: en
text: CSNB2A
lang: en
text: CSNBX2
lang: en
text: Cav1.4
lang: en
text: JM8
lang: en
text: JMC8
lang: en
text: OA2
GeneType: Name: gene with protein product
Name: G protein subunit alpha transducin 1
Symbol: GNAT1
Synonyms: lang: en
text: CSNBAD3
GeneType: Name: gene with protein product
Name: glutamate metabotropic receptor 6
Symbol: GRM6
Synonyms: lang: en
text: CSNB1B
lang: en
text: GPRC1F
lang: en
text: MGLUR6
lang: en
text: mGlu6
GeneType: Name: gene with protein product
Name: nyctalopin
Symbol: NYX
Synonyms: lang: en
text: CLRP
lang: en
text: CSNB1A
GeneType: Name: gene with protein product
Name: phosphodiesterase 6B
Symbol: PDE6B
Synonyms: lang: en
text: CSNB3
lang: en
text: CSNBAD2
lang: en
text: RP40
lang: en
text: congenital stationary night blindness 3, autosomal dominant
lang: en
text: rd1
lang: en
text: rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 4
Symbol: CACNA2D4
Synonyms: lang: en
text: alpha2delta-4
GeneType: Name: gene with protein product
Name: transient receptor potential cation channel subfamily M member 1
Symbol: TRPM1
Synonyms: lang: en
text: CSNB1C
lang: en
text: LTRPC1
GeneType: Name: gene with protein product
Name: solute carrier family 24 member 1
Symbol: SLC24A1
Synonyms: lang: en
text: CSNB1D
lang: en
text: HsT17412
lang: en
text: KIAA0702
lang: en
text: NCKX
lang: en
text: NCKX1
lang: en
text: Na/Ca-K exchanger 1
lang: en
text: RODX
lang: en
text: retinal rod Na+/Ca+/K+ exchanger
GeneType: Name: gene with protein product
Name: G protein-coupled receptor 179
Symbol: GPR179
Synonyms: lang: en
text: CSNB1E
GeneType: Name: gene with protein product
Name: leucine rich repeat, Ig-like and transmembrane domains 3
Symbol: LRIT3
Synonyms: lang: en
text: CSNB1F
lang: en
text: FIGLER4
lang: en
text: FLJ44691
lang: en
text: Fibronectin type III, immunoglobulin and leucine rich repeat domains 4
lang: en
text: fibronectin type III, immunoglobulin and leucine rich repeat domains 4
GeneType: Name: gene with protein product
Name: G protein-coupled receptor kinase 1
Symbol: GRK1
Synonyms: lang: en
text: GPRK1
lang: en
text: RK
GeneType: Name: gene with protein product
Name: G protein subunit beta 3
Symbol: GNB3
Synonyms: lang: en
text: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
lang: en
text: transducin beta chain 3
GeneType: Name: gene with protein product
Rare disease: Familial Mediterranean fever (Orphanet code 342)
Associated genes:
Name: MEFV innate immunity regulator, pyrin
Symbol: MEFV
Synonyms: lang: en
text: FMF
lang: en
text: TRIM20
lang: en
text: marenostrin
GeneType: Name: gene with protein product
Rare disease: Choroideremia (Orphanet code 180)
Associated genes:
Name: CHM Rab escort protein
Symbol: CHM
Synonyms: lang: en
text: REP-1
lang: en
text: Rab escort protein 1
GeneType: Name: gene with protein product
Rare disease: Congenital factor VII deficiency (Orphanet code 327)
Associated genes:
Name: coagulation factor VII
Symbol: F7
Synonyms: lang: en
text: FVII coagulation protein
lang: en
text: eptacog alfa
lang: en
text: factor VII
GeneType: Name: gene with protein product
Rare disease: Simpson-Golabi-Behmel syndrome (Orphanet code 373)
Associated genes:
Name: glypican 3
Symbol: GPC3
Synonyms: lang: en
text: DGSX
lang: en
text: OCI-5
lang: en
text: SGB
lang: en
text: SGBS
lang: en
text: SGBS1
lang: en
text: glypican proteoglycan 3
GeneType: Name: gene with protein product
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: Familial hyperaldosteronism type I (Orphanet code 403)
Associated genes:
Name: cytochrome P450 family 11 subfamily B member 1
Symbol: CYP11B1
Synonyms: lang: en
text: CPN1
lang: en
text: FHI
lang: en
text: P450C11
lang: en
text: steroid 11-beta-monooxygenase
GeneType: Name: gene with protein product
Name: cytochrome P450 family 11 subfamily B member 2
Symbol: CYP11B2
Synonyms: lang: en
text: ALDOS
lang: en
text: CPN2
lang: en
text: CYP11BL
lang: en
text: P-450C18
lang: en
text: P450aldo
lang: en
text: steroid 11-beta-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Familial prostate cancer (Orphanet code 1331)
Associated genes:
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: microseminoprotein beta
Symbol: MSMB
Synonyms: lang: en
text: IGBF
lang: en
text: MSP
lang: en
text: MSPB
lang: en
text: PN44
lang: en
text: PRPS
lang: en
text: PSP
lang: en
text: PSP-94
lang: en
text: PSP57
lang: en
text: PSP94
lang: en
text: beta-microseminoprotein
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: 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: steroid 5 alpha-reductase 2
Symbol: SRD5A2
Synonyms: lang: en
text: 3-oxo-5-alpha-steroid 4-dehydrogenase 2
GeneType: Name: gene with protein product
Name: ribonuclease L
Symbol: RNASEL
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: 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: elaC ribonuclease Z 2
Symbol: ELAC2
Synonyms: lang: en
text: FLJ10530
lang: en
text: HPC2
lang: en
text: tRNase Z (long form)
GeneType: Name: gene with protein product
Name: EPH receptor B2
Symbol: EPHB2
Synonyms: lang: en
text: Hek5
lang: en
text: Tyro5
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: HNF1 homeobox B
Symbol: HNF1B
Synonyms: lang: en
text: HNF1beta
lang: en
text: HNF1ß
lang: en
text: LFB3
lang: en
text: MODY5
lang: en
text: VHNF1
lang: en
text: hepatocyte nuclear factor 1 beta
GeneType: Name: gene with protein product
Name: homeobox B13
Symbol: HOXB13
GeneType: Name: gene with protein product
Name: macrophage scavenger receptor 1
Symbol: MSR1
Synonyms: lang: en
text: CD204
lang: en
text: SCARA1
lang: en
text: SR-A
lang: en
text: SR-AI
lang: en
text: SR-AII
lang: en
text: SR-AIII
GeneType: Name: gene with protein product
Rare disease: X-linked alpha-thalassemia-intellectual disability syndrome (Orphanet code 847)
Associated genes:
Name: ATRX chromatin remodeler
Symbol: ATRX
Synonyms: lang: en
text: RAD54 homolog (S. cerevisiae)
lang: en
text: XH2
lang: en
text: XNP
GeneType: Name: gene with protein product
Rare disease: ICF syndrome (Orphanet code 2268)
Associated genes:
Name: DNA methyltransferase 3 beta
Symbol: DNMT3B
GeneType: Name: gene with protein product
Name: zinc finger and BTB domain containing 24
Symbol: ZBTB24
Synonyms: lang: en
text: BIF1
lang: en
text: KIAA0441
lang: en
text: PATZ2
lang: en
text: POZ (BTB) and AT hook containing zinc finger 2
GeneType: Name: gene with protein product
Name: cell division cycle associated 7
Symbol: CDCA7
Synonyms: lang: en
text: FLJ14736
lang: en
text: JPO1
GeneType: Name: gene with protein product
Name: helicase, lymphoid specific
Symbol: HELLS
Synonyms: lang: en
text: LSH
lang: en
text: Nbla10143
lang: en
text: PASG
lang: en
text: SALNR
lang: en
text: SMARCA6
lang: en
text: SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6
lang: en
text: Senescence Associated Long Non-coding RNA
lang: en
text: proliferation-associated SNF2-like protein
GeneType: Name: gene with protein product
Name: ubiquitin like with PHD and ring finger domains 1
Symbol: UHRF1
Synonyms: lang: en
text: FLJ21925
lang: en
text: ICBP90
lang: en
text: Np95
lang: en
text: RNF106
lang: en
text: TDRD22
lang: en
text: inverted CCAAT box binding protein 90
GeneType: Name: gene with protein product
Rare disease: Holt-Oram syndrome (Orphanet code 392)
Associated genes:
Name: T-box transcription factor 5
Symbol: TBX5
GeneType: Name: gene with protein product
Rare disease: Familial abdominal aortic aneurysm (Orphanet code 86)
Associated genes:
Name: collagen type III alpha 1 chain
Symbol: COL3A1
GeneType: Name: gene with protein product
Rare disease: 46,XX gonadal dysgenesis (Orphanet code 243)
Associated genes:
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: mitochondrial ribosomal protein S22
Symbol: MRPS22
Synonyms: lang: en
text: C3orf5
lang: en
text: GIBT
lang: en
text: GK002
lang: en
text: MRP-S22
lang: en
text: mS22
GeneType: Name: gene with protein product
Name: follicle stimulating hormone receptor
Symbol: FSHR
Synonyms: lang: en
text: FSHRO
lang: en
text: LGR1
GeneType: Name: gene with protein product
Name: bone morphogenetic protein 15
Symbol: BMP15
Synonyms: lang: en
text: GDF9B
GeneType: Name: gene with protein product
Name: PSMC3 interacting protein
Symbol: PSMC3IP
Synonyms: lang: en
text: GT198
lang: en
text: HUMGT198A
lang: en
text: Hop2
lang: en
text: TBP-1 interacting protein
lang: en
text: TBPIP
lang: en
text: homologous-pairing protein 2 homolog
GeneType: Name: gene with protein product
Name: nucleoporin 107
Symbol: NUP107
Synonyms: lang: en
text: NUP84
lang: en
text: nuclear pore complex protein Nup107
GeneType: Name: gene with protein product
Name: basonuclin zinc finger protein 1
Symbol: BNC1
Synonyms: lang: en
text: BSN1
lang: en
text: HsT19447
lang: en
text: bn1
GeneType: Name: gene with protein product
Name: zinc finger SWIM-type containing 7
Symbol: ZSWIM7
Synonyms: lang: en
text: SWIM domain containing Srs2 interacting protein 1
lang: en
text: SWS1
GeneType: Name: gene with protein product
Name: RNA polymerase III subunit H
Symbol: POLR3H
Synonyms: lang: en
text: C25
lang: en
text: KIAA1665
lang: en
text: RPC8
GeneType: Name: gene with protein product
Name: mutS homolog 4
Symbol: MSH4
GeneType: Name: gene with protein product
Name: scaffold protein involved in DNA repair
Symbol: SPIDR
GeneType: Name: gene with protein product
Rare disease: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy (Orphanet code 136)
Associated genes:
Name: notch receptor 3
Symbol: NOTCH3
Synonyms: lang: en
text: CASIL
GeneType: Name: gene with protein product
Rare disease: Congenital bilateral absence of vas deferens (Orphanet code 48)
Associated genes:
Name: adhesion G protein-coupled receptor G2
Symbol: ADGRG2
Synonyms: lang: en
text: EDDM6
lang: en
text: HE6
lang: en
text: TM7LN2
lang: en
text: epididymal protein 6
GeneType: Name: gene with protein product
Name: CF transmembrane conductance regulator
Symbol: CFTR
Synonyms: lang: en
text: ABC35
lang: en
text: ATP-binding cassette sub-family C, member 7
lang: en
text: CFTR/MRP
lang: en
text: MRP7
lang: en
text: TNR-CFTR
lang: en
text: dJ760C5.1
GeneType: Name: gene with protein product
Rare disease: Congenital generalized lipodystrophy (Orphanet code 528)
Associated genes:
Name: caveolae associated protein 1
Symbol: CAVIN1
Synonyms: lang: en
text: CGL4
lang: en
text: cavin-1
lang: en
text: congenital generalized lipodystrophy 4
GeneType: Name: gene with protein product
Name: peroxisome proliferator activated receptor gamma
Symbol: PPARG
Synonyms: lang: en
text: NR1C3
lang: en
text: PPARG1
lang: en
text: PPARG2
lang: en
text: PPARgamma
GeneType: Name: gene with protein product
Name: BSCL2 lipid droplet biogenesis associated, seipin
Symbol: BSCL2
Synonyms: lang: en
text: seipin
GeneType: Name: gene with protein product
Name: 1-acylglycerol-3-phosphate O-acyltransferase 2
Symbol: AGPAT2
Synonyms: lang: en
text: 1-acyl-sn-glycerol-3-phosphate acyltransferase beta
lang: en
text: LPAAT-beta
lang: en
text: LPLAT2
lang: en
text: lysophosphatidic acid acyltransferase, beta
lang: en
text: lysophosphatidic acid acyltransferase-beta
lang: en
text: lysophospholipid acyltransferase 2
GeneType: Name: gene with protein product
Name: caveolin 1
Symbol: CAV1
GeneType: Name: gene with protein product
Name: Fos proto-oncogene, AP-1 transcription factor subunit
Symbol: FOS
Synonyms: lang: en
text: AP-1
lang: en
text: c-fos
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to DCLRE1C deficiency (Orphanet code 275)
Associated genes:
Name: DNA cross-link repair 1C
Symbol: DCLRE1C
Synonyms: lang: en
text: A-SCID
lang: en
text: ARTEMIS
lang: en
text: FLJ11360
lang: en
text: PSO2 homolog (S. cerevisiae)
lang: en
text: SNM1C
GeneType: Name: gene with protein product
Rare disease: Cherubism (Orphanet code 184)
Associated genes:
Name: SH3 domain binding protein 2
Symbol: SH3BP2
Synonyms: lang: en
text: CRBM
lang: en
text: RES4-23
GeneType: Name: gene with protein product
Rare disease: Chylomicron retention disease (Orphanet code 71)
Associated genes:
Name: secretion associated Ras related GTPase 1B
Symbol: SAR1B
GeneType: Name: gene with protein product
Rare disease: Benign familial neonatal epilepsy (Orphanet code 1949)
Associated genes:
Name: potassium voltage-gated channel subfamily Q member 2
Symbol: KCNQ2
Synonyms: lang: en
text: BFNC
lang: en
text: ENB1
lang: en
text: HNSPC
lang: en
text: KCNA11
lang: en
text: Kv7.2
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 3
Symbol: KCNQ3
Synonyms: lang: en
text: Kv7.3
GeneType: Name: gene with protein product
Rare disease: Hidrotic ectodermal dysplasia (Orphanet code 189)
Associated genes:
Name: gap junction protein beta 6
Symbol: GJB6
Synonyms: lang: en
text: CX30
lang: en
text: EDH
lang: en
text: HED
lang: en
text: connexin 30
GeneType: Name: gene with protein product
Rare disease: Uveal coloboma-cleft lip and palate-intellectual disability (Orphanet code 1473)
Associated genes:
Name: Yes1 associated transcriptional regulator
Symbol: YAP1
Synonyms: lang: en
text: YAP-1
lang: en
text: YAP65
GeneType: Name: gene with protein product
Rare disease: Atrial standstill (Orphanet code 1344)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 5
Symbol: SCN5A
Synonyms: lang: en
text: CDCD2
lang: en
text: CMPD2
lang: en
text: HB1
lang: en
text: HB2
lang: en
text: HBBD
lang: en
text: HH1
lang: en
text: ICCD
lang: en
text: IVF
lang: en
text: LQT3
lang: en
text: Nav1.5
lang: en
text: PFHB1
lang: en
text: SSS1
lang: en
text: long QT syndrome 3
GeneType: Name: gene with protein product
Name: natriuretic peptide A
Symbol: NPPA
GeneType: Name: gene with protein product
Rare disease: MYH9-related disease (Orphanet code 182050)
Associated genes:
Name: myosin heavy chain 9
Symbol: MYH9
Synonyms: lang: en
text: EPSTS
lang: en
text: FTNS
lang: en
text: MHA
lang: en
text: NMHC-II-A
lang: en
text: NMMHCA
lang: en
text: nonmuscle myosin heavy chain II-A
GeneType: Name: gene with protein product
Rare disease: Roberts syndrome (Orphanet code 3103)
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: Peters plus syndrome (Orphanet code 709)
Associated genes:
Name: beta 3-glucosyltransferase
Symbol: B3GLCT
Synonyms: lang: en
text: B3GTL
lang: en
text: B3Glc-T
lang: en
text: beta-1,3-glucosyltransferase
GeneType: Name: gene with protein product
Rare disease: Lujan-Fryns syndrome (Orphanet code 776)
Associated genes:
Name: mediator complex subunit 12
Symbol: MED12
Synonyms: lang: en
text: ARC240
lang: en
text: CAGH45
lang: en
text: HOPA
lang: en
text: KIAA0192
lang: en
text: Kohtalo homolog
lang: en
text: Kto
lang: en
text: OKS
lang: en
text: OPA1
lang: en
text: TRAP230
GeneType: Name: gene with protein product
Name: zinc finger DHHC-type palmitoyltransferase 9
Symbol: ZDHHC9
Synonyms: lang: en
text: CGI-89
lang: en
text: DHHC9
lang: en
text: ZNF379
lang: en
text: ZNF380
lang: en
text: Zinc finger protein 379
lang: en
text: Zinc finger protein 380
GeneType: Name: gene with protein product
Name: UPF3B regulator of nonsense mediated mRNA decay
Symbol: UPF3B
Synonyms: lang: en
text: HUPF3B
lang: en
text: MRX82
lang: en
text: RENT3B
lang: en
text: UPF3X
GeneType: Name: gene with protein product
Rare disease: Werner syndrome (Orphanet code 902)
Associated genes:
Name: WRN RecQ like helicase
Symbol: WRN
Synonyms: lang: en
text: RECQ3
lang: en
text: RECQL2
GeneType: Name: gene with protein product
Rare disease: Van der Woude syndrome (Orphanet code 888)
Associated genes:
Name: interferon regulatory factor 6
Symbol: IRF6
Synonyms: lang: en
text: OFC6
lang: en
text: VWS1
GeneType: Name: gene with protein product
Name: grainyhead like transcription factor 3
Symbol: GRHL3
Synonyms: lang: en
text: SOM
lang: en
text: sister-of-mammalian grainyhead
GeneType: Name: gene with protein product
Rare disease: Familial progressive cardiac conduction defect (Orphanet code 871)
Associated genes:
Name: sodium voltage-gated channel beta subunit 1
Symbol: SCN1B
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 5
Symbol: SCN5A
Synonyms: lang: en
text: CDCD2
lang: en
text: CMPD2
lang: en
text: HB1
lang: en
text: HB2
lang: en
text: HBBD
lang: en
text: HH1
lang: en
text: ICCD
lang: en
text: IVF
lang: en
text: LQT3
lang: en
text: Nav1.5
lang: en
text: PFHB1
lang: en
text: SSS1
lang: en
text: long QT syndrome 3
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: transient receptor potential cation channel subfamily M member 4
Symbol: TRPM4
Synonyms: lang: en
text: FLJ20041
GeneType: Name: gene with protein product
Rare disease: Monosomy 13q14 (Orphanet code 1587)
Associated genes:
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
Rare disease: Deletion 5q35 (Orphanet code 1627)
Associated genes:
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: nuclear receptor binding SET domain protein 1
Symbol: NSD1
Synonyms: lang: en
text: ARA267
lang: en
text: FLJ22263
lang: en
text: KMT3B
GeneType: Name: gene with protein product
Rare disease: Noonan syndrome with multiple lentigines (Orphanet code 500)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 11
Symbol: PTPN11
Synonyms: lang: en
text: BPTP3
lang: en
text: PTP2C
lang: en
text: SH-PTP2
lang: en
text: SH2 domain-containing protein tyrosine phosphatase 2
lang: en
text: SHP-2
lang: en
text: SHP2
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
Name: Raf-1 proto-oncogene, serine/threonine kinase
Symbol: RAF1
Synonyms: lang: en
text: C-Raf proto-oncogene, serine/threonine kinase
lang: en
text: CRAF
lang: en
text: Raf-1
lang: en
text: c-Raf
GeneType: Name: gene with protein product
Rare disease: Duane retraction syndrome (Orphanet code 233)
Associated genes:
Name: chimerin 1
Symbol: CHN1
Synonyms: lang: en
text: ARHGAP2
lang: en
text: Chimerin 1 (GTPase-activating protein, rho, 2)
lang: en
text: RhoGAP2
lang: en
text: chimaerin 1
lang: en
text: n-chimerin
GeneType: Name: gene with protein product
Name: MAF bZIP transcription factor B
Symbol: MAFB
GeneType: Name: gene with protein product
Name: spalt like transcription factor 4
Symbol: SALL4
Synonyms: lang: en
text: ZNF797
lang: en
text: dJ1112F19.1
GeneType: Name: gene with protein product