TaoMedAI/RareMedData huggingface dataset:
Rare disease: Synaptic congenital myasthenic syndromes (Orphanet code 98915)
Associated genes:
Name: collagen like tail subunit of asymmetric acetylcholinesterase
Symbol: COLQ
Synonyms: lang: en
text: AChE Q subunit
lang: en
text: EAD
lang: en
text: acetylcholinesterase-associated collagen
lang: en
text: collagenic tail of endplate acetylcholinesterase
lang: en
text: single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
GeneType: Name: gene with protein product
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: Congenital myopathy with excess of thin filaments (Orphanet code 98904)
Associated genes:
Name: actin alpha 1, skeletal muscle
Symbol: ACTA1
Synonyms: lang: en
text: NEM3
lang: en
text: nemaline myopathy type 3
GeneType: Name: gene with protein product
Rare disease: Congenital multicore myopathy with external ophthalmoplegia (Orphanet code 98905)
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: Neutral lipid storage disease with myopathy (Orphanet code 98908)
Associated genes:
Name: patatin like phospholipase domain containing 2
Symbol: PNPLA2
Synonyms: lang: en
text: ATGL
lang: en
text: FP17548
lang: en
text: TTS-2.2
lang: en
text: desnutrin
lang: en
text: iPLA2zeta
GeneType: Name: gene with protein product
Rare disease: Neutral lipid storage disease with ichthyosis (Orphanet code 98907)
Associated genes:
Name: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Symbol: ABHD5
Synonyms: lang: en
text: CGI-58
lang: en
text: NCIE2
GeneType: Name: gene with protein product
Rare disease: Desminopathy (Orphanet code 98909)
Associated genes:
Name: desmin
Symbol: DES
Synonyms: lang: en
text: CMD1I
lang: en
text: CSM1
lang: en
text: CSM2
lang: en
text: LGMD2R
lang: en
text: cardiomyopathy, dilated 1I
lang: en
text: intermediate filament protein
GeneType: Name: gene with protein product
Rare disease: Multiple system atrophy, parkinsonian type (Orphanet code 98933)
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: Huntington disease-like 2 (Orphanet code 98934)
Associated genes:
Name: junctophilin 3
Symbol: JPH3
Synonyms: lang: en
text: CAGL237
lang: en
text: HDL2
lang: en
text: JP-3
lang: en
text: JP3
lang: en
text: junctophilin3
GeneType: Name: gene with protein product
Rare disease: Spinal muscular atrophy with respiratory distress type 1 (Orphanet code 98920)
Associated genes:
Name: immunoglobulin mu DNA binding protein 2
Symbol: IGHMBP2
Synonyms: lang: en
text: CATF1
lang: en
text: CMT2S
lang: en
text: HCSA
lang: en
text: HMN6
lang: en
text: SMARD1
lang: en
text: SMUBP2
lang: en
text: ZFAND7
lang: en
text: cardiac transcription factor 1
lang: en
text: zinc finger, AN1-type domain 7
GeneType: Name: gene with protein product
Rare disease: Coloboma of choroid and retina (Orphanet code 98942)
Associated genes:
Name: actin gamma 1
Symbol: ACTG1
GeneType: Name: gene with protein product
Name: frizzled class receptor 5
Symbol: FZD5
Synonyms: lang: en
text: DKFZP434E2135
lang: en
text: HFZ5
GeneType: Name: gene with protein product
Name: spalt like transcription factor 2
Symbol: SALL2
Synonyms: lang: en
text: Hsal2
lang: en
text: KIAA0360
lang: en
text: ZNF795
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
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
Rare disease: Colobomatous microphthalmia (Orphanet code 98938)
Associated genes:
Name: sonic hedgehog signaling molecule
Symbol: SHH
Synonyms: lang: en
text: HHG1
lang: en
text: MCOPCB5
lang: en
text: SMMCI
lang: en
text: TPT
lang: en
text: TPTPS
GeneType: Name: gene with protein product
Name: signaling receptor and transporter of retinol STRA6
Symbol: STRA6
Synonyms: lang: en
text: FLJ12541
lang: en
text: RBP receptor
lang: en
text: retinol binding protein 4 receptor
GeneType: Name: gene with protein product
Name: visual system homeobox 2
Symbol: VSX2
Synonyms: lang: en
text: RET1
GeneType: Name: gene with protein product
Name: growth differentiation factor 6
Symbol: GDF6
Synonyms: lang: en
text: BMP13
lang: en
text: KFS
lang: en
text: KFS1
GeneType: Name: gene with protein product
Name: growth differentiation factor 3
Symbol: GDF3
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
Name: teneurin transmembrane protein 3
Symbol: TENM3
Synonyms: lang: en
text: KIAA1455
lang: en
text: TEN3
lang: en
text: Ten-M3
GeneType: Name: gene with protein product
Name: retinol binding protein 4
Symbol: RBP4
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 2
Symbol: SOX2
GeneType: Name: gene with protein product
Name: SIX homeobox 6
Symbol: SIX6
Synonyms: lang: en
text: Six9
GeneType: Name: gene with protein product
Name: orthodenticle homeobox 2
Symbol: OTX2
GeneType: Name: gene with protein product
Name: retina and anterior neural fold homeobox
Symbol: RAX
Synonyms: lang: en
text: RAX1
lang: en
text: RX
lang: en
text: retinal homeobox protein Rx
GeneType: Name: gene with protein product
Name: aldehyde dehydrogenase 1 family member A3
Symbol: ALDH1A3
Synonyms: lang: en
text: RALDH3
lang: en
text: Retinaldehyde dehydrogenase 3
lang: en
text: retinaldehyde dehydrogenase 3
GeneType: Name: gene with protein product
Name: porcupine O-acyltransferase
Symbol: PORCN
Synonyms: lang: en
text: MG61
lang: en
text: PORC
lang: en
text: PPN
lang: en
text: por
GeneType: Name: gene with protein product
Rare disease: Complete cryptophthalmia (Orphanet code 98949)
Associated genes:
Name: FRAS1 related extracellular matrix 2
Symbol: FREM2
Synonyms: lang: en
text: DKFZp686J0811
GeneType: Name: gene with protein product
Rare disease: Coloboma of optic disc (Orphanet code 98947)
Associated genes:
Name: frizzled class receptor 5
Symbol: FZD5
Synonyms: lang: en
text: DKFZP434E2135
lang: en
text: HFZ5
GeneType: Name: gene with protein product
Name: spalt like transcription factor 2
Symbol: SALL2
Synonyms: lang: en
text: Hsal2
lang: en
text: KIAA0360
lang: en
text: ZNF795
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
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
Rare disease: Coloboma of macula (Orphanet code 98945)
Associated genes:
Name: frizzled class receptor 5
Symbol: FZD5
Synonyms: lang: en
text: DKFZP434E2135
lang: en
text: HFZ5
GeneType: Name: gene with protein product
Name: spalt like transcription factor 2
Symbol: SALL2
Synonyms: lang: en
text: Hsal2
lang: en
text: KIAA0360
lang: en
text: ZNF795
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
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
Rare disease: Coloboma of eyelid (Orphanet code 98946)
Associated genes:
Name: frizzled class receptor 5
Symbol: FZD5
Synonyms: lang: en
text: DKFZP434E2135
lang: en
text: HFZ5
GeneType: Name: gene with protein product
Name: spalt like transcription factor 2
Symbol: SALL2
Synonyms: lang: en
text: Hsal2
lang: en
text: KIAA0360
lang: en
text: ZNF795
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
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
Rare disease: Coloboma of eye lens (Orphanet code 98943)
Associated genes:
Name: frizzled class receptor 5
Symbol: FZD5
Synonyms: lang: en
text: DKFZP434E2135
lang: en
text: HFZ5
GeneType: Name: gene with protein product
Name: spalt like transcription factor 2
Symbol: SALL2
Synonyms: lang: en
text: Hsal2
lang: en
text: KIAA0360
lang: en
text: ZNF795
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
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
Rare disease: Coloboma of iris (Orphanet code 98944)
Associated genes:
Name: actin gamma 1
Symbol: ACTG1
GeneType: Name: gene with protein product
Name: frizzled class receptor 5
Symbol: FZD5
Synonyms: lang: en
text: DKFZP434E2135
lang: en
text: HFZ5
GeneType: Name: gene with protein product
Name: spalt like transcription factor 2
Symbol: SALL2
Synonyms: lang: en
text: Hsal2
lang: en
text: KIAA0360
lang: en
text: ZNF795
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
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
Rare disease: Gelatinous drop-like corneal dystrophy (Orphanet code 98957)
Associated genes:
Name: tumor associated calcium signal transducer 2
Symbol: TACSTD2
Synonyms: lang: en
text: EGP-1
lang: en
text: GA733-1
lang: en
text: TROP2
lang: en
text: epithelial glycoprotein-1
lang: en
text: trophoblast cell surface antigen 2
GeneType: Name: gene with protein product
Rare disease: Epithelial basement membrane dystrophy (Orphanet code 98956)
Associated genes:
Name: transforming growth factor beta induced
Symbol: TGFBI
Synonyms: lang: en
text: BIGH3
lang: en
text: CDB1
lang: en
text: CDGG1
GeneType: Name: gene with protein product
Rare disease: Meesmann corneal dystrophy (Orphanet code 98954)
Associated genes:
Name: keratin 12
Symbol: KRT12
Synonyms: lang: en
text: K12
lang: en
text: Meesmann corneal dystrophy
GeneType: Name: gene with protein product
Name: keratin 3
Symbol: KRT3
Synonyms: lang: en
text: CK3
lang: en
text: K3
lang: en
text: cytokeratin 3
lang: en
text: keratin, type II cytoskeletal 3
GeneType: Name: gene with protein product
Rare disease: Lattice corneal dystrophy type I (Orphanet code 98964)
Associated genes:
Name: transforming growth factor beta induced
Symbol: TGFBI
Synonyms: lang: en
text: BIGH3
lang: en
text: CDB1
lang: en
text: CDGG1
GeneType: Name: gene with protein product
Rare disease: Granular corneal dystrophy type II (Orphanet code 98963)
Associated genes:
Name: transforming growth factor beta induced
Symbol: TGFBI
Synonyms: lang: en
text: BIGH3
lang: en
text: CDB1
lang: en
text: CDGG1
GeneType: Name: gene with protein product
Rare disease: Granular corneal dystrophy type I (Orphanet code 98962)
Associated genes:
Name: transforming growth factor beta induced
Symbol: TGFBI
Synonyms: lang: en
text: BIGH3
lang: en
text: CDB1
lang: en
text: CDGG1
GeneType: Name: gene with protein product
Rare disease: Reis-Bücklers corneal dystrophy (Orphanet code 98961)
Associated genes:
Name: transforming growth factor beta induced
Symbol: TGFBI
Synonyms: lang: en
text: BIGH3
lang: en
text: CDB1
lang: en
text: CDGG1
GeneType: Name: gene with protein product
Rare disease: Thiel-Behnke corneal dystrophy (Orphanet code 98960)
Associated genes:
Name: transforming growth factor beta induced
Symbol: TGFBI
Synonyms: lang: en
text: BIGH3
lang: en
text: CDB1
lang: en
text: CDGG1
GeneType: Name: gene with protein product
Rare disease: Posterior polymorphous corneal dystrophy (Orphanet code 98973)
Associated genes:
Name: visual system homeobox 1
Symbol: VSX1
Synonyms: lang: en
text: PPCD1
lang: en
text: PPD
GeneType: Name: gene with protein product
Name: zinc finger E-box binding homeobox 1
Symbol: ZEB1
Synonyms: lang: en
text: AREB6
lang: en
text: BZP
lang: en
text: FECD6
lang: en
text: NIL-2-A
lang: en
text: ZEB
lang: en
text: Zfhep
lang: en
text: Zfhx1a
GeneType: Name: gene with protein product
Name: collagen type VIII alpha 2 chain
Symbol: COL8A2
Synonyms: lang: en
text: FECD1
lang: en
text: PPCD
lang: en
text: PPCD2
GeneType: Name: gene with protein product
Name: ovo like zinc finger 2
Symbol: OVOL2
Synonyms: lang: en
text: CHED
lang: en
text: HOVO2
lang: en
text: bA504H3.3
GeneType: Name: gene with protein product
Name: grainyhead like transcription factor 2
Symbol: GRHL2
Synonyms: lang: en
text: BOM
lang: en
text: FLJ13782
lang: en
text: brother-of-MGR
GeneType: Name: gene with protein product
Rare disease: Fuchs endothelial corneal dystrophy (Orphanet code 98974)
Associated genes:
Name: solute carrier family 4 member 11
Symbol: SLC4A11
Synonyms: lang: en
text: BTR1
lang: en
text: FECD4
lang: en
text: NaBC1
lang: en
text: bicarbonate transporter related protein 1
lang: en
text: dJ794I6.2
lang: en
text: sodium-coupled borate cotransporter 1
GeneType: Name: gene with protein product
Name: zinc finger E-box binding homeobox 1
Symbol: ZEB1
Synonyms: lang: en
text: AREB6
lang: en
text: BZP
lang: en
text: FECD6
lang: en
text: NIL-2-A
lang: en
text: ZEB
lang: en
text: Zfhep
lang: en
text: Zfhx1a
GeneType: Name: gene with protein product
Name: collagen type VIII alpha 2 chain
Symbol: COL8A2
Synonyms: lang: en
text: FECD1
lang: en
text: PPCD
lang: en
text: PPCD2
GeneType: Name: gene with protein product
Name: transcription factor 4
Symbol: TCF4
Synonyms: lang: en
text: E2-2
lang: en
text: ITF2
lang: en
text: SEF2-1B
lang: en
text: SL3-3 enhancer factor 2
lang: en
text: bHLHb19
lang: en
text: class B basic helix-loop-helix protein 19
lang: en
text: immunoglobulin transcription factor 2
GeneType: Name: gene with protein product
Name: AGBL carboxypeptidase 1
Symbol: AGBL1
Synonyms: lang: en
text: CCP4
lang: en
text: FLJ32310
lang: en
text: cytosolic carboxypeptidase 4
GeneType: Name: gene with protein product
Rare disease: Schnyder corneal dystrophy (Orphanet code 98967)
Associated genes:
Name: UbiA prenyltransferase domain containing 1
Symbol: UBIAD1
Synonyms: lang: en
text: TERE1
lang: en
text: transitional epithelia response protein
GeneType: Name: gene with protein product
Rare disease: Macular corneal dystrophy (Orphanet code 98969)
Associated genes:
Name: carbohydrate sulfotransferase 6
Symbol: CHST6
GeneType: Name: gene with protein product
Rare disease: Fleck corneal dystrophy (Orphanet code 98970)
Associated genes:
Name: phosphoinositide kinase, FYVE-type zinc finger containing
Symbol: PIKFYVE
Synonyms: lang: en
text: FAB1
lang: en
text: KIAA0981
lang: en
text: MGC40423
lang: en
text: PIKfyve
lang: en
text: PIP5K
lang: en
text: ZFYVE29
lang: en
text: p235
lang: en
text: zinc finger, FYVE domain containing 29
GeneType: Name: gene with protein product
Rare disease: Congenital glaucoma (Orphanet code 98976)
Associated genes:
Name: cytochrome P450 family 1 subfamily B member 1
Symbol: CYP1B1
Synonyms: lang: en
text: CP1B
GeneType: Name: gene with protein product
Name: myocilin
Symbol: MYOC
Synonyms: lang: en
text: JOAG1
lang: en
text: TIGR
lang: en
text: juvenile-onset open-angle glaucoma 1
lang: en
text: trabecular meshwork inducible glucocorticoid response protein
GeneType: Name: gene with protein product
Name: latent transforming growth factor beta binding protein 2
Symbol: LTBP2
GeneType: Name: gene with protein product
Name: TEK receptor tyrosine kinase
Symbol: TEK
Synonyms: lang: en
text: CD202b
lang: en
text: TIE-2
lang: en
text: TIE2
lang: en
text: VMCM1
lang: en
text: angiopoietin-1 receptor
GeneType: Name: gene with protein product
Rare disease: Juvenile glaucoma (Orphanet code 98977)
Associated genes:
Name: cytochrome P450 family 1 subfamily B member 1
Symbol: CYP1B1
Synonyms: lang: en
text: CP1B
GeneType: Name: gene with protein product
Name: myocilin
Symbol: MYOC
Synonyms: lang: en
text: JOAG1
lang: en
text: TIGR
lang: en
text: juvenile-onset open-angle glaucoma 1
lang: en
text: trabecular meshwork inducible glucocorticoid response protein
GeneType: Name: gene with protein product
Name: EGF containing fibulin extracellular matrix protein 1
Symbol: EFEMP1
Synonyms: lang: en
text: FBLN3
lang: en
text: MTLV
lang: en
text: S1-5
lang: en
text: fibulin 3
GeneType: Name: gene with protein product
Rare disease: Axenfeld anomaly (Orphanet code 98978)
Associated genes:
Name: paired like homeodomain 2
Symbol: PITX2
Synonyms: lang: en
text: ARP1
lang: en
text: Brx1
lang: en
text: IGDS
lang: en
text: Otlx2
lang: en
text: RS
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: Early-onset anterior polar cataract (Orphanet code 98988)
Associated genes:
Name: crystallin alpha A
Symbol: CRYAA
Synonyms: lang: en
text: HSPB4
GeneType: Name: gene with protein product
Name: crystallin beta B3
Symbol: CRYBB3
GeneType: Name: gene with protein product
Name: crystallin gamma B
Symbol: CRYGB
GeneType: Name: gene with protein product
Name: crystallin beta A2
Symbol: CRYBA2
GeneType: Name: gene with protein product
Rare disease: Coralliform cataract (Orphanet code 98990)
Associated genes:
Name: crystallin gamma D
Symbol: CRYGD
GeneType: Name: gene with protein product
Rare disease: Cerulean cataract (Orphanet code 98989)
Associated genes:
Name: crystallin beta B2
Symbol: CRYBB2
GeneType: Name: gene with protein product
Name: crystallin gamma D
Symbol: CRYGD
GeneType: Name: gene with protein product
Name: major intrinsic protein of lens fiber
Symbol: MIP
Synonyms: lang: en
text: AQP0
lang: en
text: LIM1
lang: en
text: MP26
lang: en
text: aquaporin 0
GeneType: Name: gene with protein product
Name: MAF bZIP transcription factor
Symbol: MAF
Synonyms: lang: en
text: c-MAF
GeneType: Name: gene with protein product
Rare disease: Pulverulent cataract (Orphanet code 98984)
Associated genes:
Name: beaded filament structural protein 2
Symbol: BFSP2
Synonyms: lang: en
text: CP47
lang: en
text: CP49
lang: en
text: LIFL-L
lang: en
text: phakinin
GeneType: Name: gene with protein product
Name: crystallin beta B2
Symbol: CRYBB2
GeneType: Name: gene with protein product
Name: crystallin gamma C
Symbol: CRYGC
GeneType: Name: gene with protein product
Name: crystallin gamma D
Symbol: CRYGD
GeneType: Name: gene with protein product
Name: gap junction protein alpha 3
Symbol: GJA3
Synonyms: lang: en
text: CX46
lang: en
text: connexin 46
GeneType: Name: gene with protein product
Name: gap junction protein alpha 8
Symbol: GJA8
Synonyms: lang: en
text: CX50
lang: en
text: connexin 50
GeneType: Name: gene with protein product
Name: crystallin beta B1
Symbol: CRYBB1
GeneType: Name: gene with protein product
Name: MAF bZIP transcription factor
Symbol: MAF
Synonyms: lang: en
text: c-MAF
GeneType: Name: gene with protein product
Name: vimentin
Symbol: VIM
GeneType: Name: gene with protein product
Rare disease: Early-onset sutural cataract (Orphanet code 98985)
Associated genes:
Name: beaded filament structural protein 2
Symbol: BFSP2
Synonyms: lang: en
text: CP47
lang: en
text: CP49
lang: en
text: LIFL-L
lang: en
text: phakinin
GeneType: Name: gene with protein product
Name: crystallin beta A1
Symbol: CRYBA1
Synonyms: lang: en
text: eye lens structural protein
GeneType: Name: gene with protein product
Name: crystallin beta B2
Symbol: CRYBB2
GeneType: Name: gene with protein product
Name: gap junction protein alpha 8
Symbol: GJA8
Synonyms: lang: en
text: CX50
lang: en
text: connexin 50
GeneType: Name: gene with protein product
Name: major intrinsic protein of lens fiber
Symbol: MIP
Synonyms: lang: en
text: AQP0
lang: en
text: LIM1
lang: en
text: MP26
lang: en
text: aquaporin 0
GeneType: Name: gene with protein product
Name: crystallin gamma S
Symbol: CRYGS
Synonyms: lang: en
text: crystallin, gamma 8
GeneType: Name: gene with protein product
Rare disease: Early-onset nuclear cataract (Orphanet code 98991)
Associated genes:
Name: wolframin ER transmembrane glycoprotein
Symbol: WFS1
Synonyms: lang: en
text: DIDMOAD
lang: en
text: WFS
GeneType: Name: gene with protein product
Name: crystallin alpha A
Symbol: CRYAA
Synonyms: lang: en
text: HSPB4
GeneType: Name: gene with protein product
Name: crystallin alpha B
Symbol: CRYAB
Synonyms: lang: en
text: HSPB5
GeneType: Name: gene with protein product
Name: crystallin beta A1
Symbol: CRYBA1
Synonyms: lang: en
text: eye lens structural protein
GeneType: Name: gene with protein product
Name: crystallin beta B2
Symbol: CRYBB2
GeneType: Name: gene with protein product
Name: crystallin beta B3
Symbol: CRYBB3
GeneType: Name: gene with protein product
Name: crystallin gamma C
Symbol: CRYGC
GeneType: Name: gene with protein product
Name: crystallin gamma D
Symbol: CRYGD
GeneType: Name: gene with protein product
Name: gap junction protein alpha 3
Symbol: GJA3
Synonyms: lang: en
text: CX46
lang: en
text: connexin 46
GeneType: Name: gene with protein product
Name: gap junction protein alpha 8
Symbol: GJA8
Synonyms: lang: en
text: CX50
lang: en
text: connexin 50
GeneType: Name: gene with protein product
Name: major intrinsic protein of lens fiber
Symbol: MIP
Synonyms: lang: en
text: AQP0
lang: en
text: LIM1
lang: en
text: MP26
lang: en
text: aquaporin 0
GeneType: Name: gene with protein product
Name: crystallin beta B1
Symbol: CRYBB1
GeneType: Name: gene with protein product
Name: NHS actin remodeling regulator
Symbol: NHS
GeneType: Name: gene with protein product
Name: beaded filament structural protein 1
Symbol: BFSP1
Synonyms: lang: en
text: CP115
lang: en
text: CP94
lang: en
text: Filensin
lang: en
text: LIFL-H
lang: en
text: filensin
GeneType: Name: gene with protein product
Name: EPH receptor A2
Symbol: EPHA2
GeneType: Name: gene with protein product
Name: FYVE and coiled-coil domain autophagy adaptor 1
Symbol: FYCO1
Synonyms: lang: en
text: FLJ13335
lang: en
text: ZFYVE7
GeneType: Name: gene with protein product
Name: unc-45 myosin chaperone B
Symbol: UNC45B
Synonyms: lang: en
text: UNC45
GeneType: Name: gene with protein product
Name: crystallin beta A2
Symbol: CRYBA2
GeneType: Name: gene with protein product