TaoMedAI/RareMedData huggingface dataset:
Rare disease: Chromosome Y microdeletion (Orphanet code 1646)
Associated genes:
Name: azoospermia factor 1
Symbol: AZF1
Synonyms: lang: en
text: AZFa
GeneType: Name: Disorder-associated locus
Name: ubiquitin specific peptidase 9 Y-linked
Symbol: USP9Y
Synonyms: lang: en
text: AZFA
lang: en
text: DFFRY
lang: en
text: FAF-Y
lang: en
text: azoospermia factor A
lang: en
text: fat facets-like homolog (Drosophila)
GeneType: Name: gene with protein product
Name: deleted in azoospermia 1
Symbol: DAZ1
Synonyms: lang: en
text: SPGY
GeneType: Name: gene with protein product
Name: deleted in azoospermia 2
Symbol: DAZ2
Synonyms: lang: en
text: MGC126442
lang: en
text: pDP1678
GeneType: Name: gene with protein product
Name: deleted in azoospermia 3
Symbol: DAZ3
GeneType: Name: gene with protein product
Name: deleted in azoospermia 4
Symbol: DAZ4
GeneType: Name: gene with protein product
Name: DEAD-box helicase 3 Y-linked
Symbol: DDX3Y
GeneType: Name: gene with protein product
Name: RNA binding motif protein Y-linked family 1 member A1
Symbol: RBMY1A1
Synonyms: lang: en
text: YRRM1
lang: en
text: YRRM2
GeneType: Name: gene with protein product
Name: testis specific protein Y-linked 1
Symbol: TSPY1
Synonyms: lang: en
text: CT78
lang: en
text: cancer/testis antigen 78
GeneType: Name: gene with protein product
Rare disease: Primary CD59 deficiency (Orphanet code 169464)
Associated genes:
Name: CD59 molecule (CD59 blood group)
Symbol: CD59
Synonyms: lang: en
text: 16.3A5
lang: en
text: CD59 glycoprotein
lang: en
text: EJ16
lang: en
text: EJ30
lang: en
text: EL32
lang: en
text: G344
lang: en
text: membrane attack complex inhibition factor
lang: en
text: membrane inhibitor of reactive lysis
lang: en
text: p18-20
GeneType: Name: gene with protein product
Rare disease: Apert syndrome (Orphanet code 87)
Associated genes:
Name: fibroblast growth factor receptor 2
Symbol: FGFR2
Synonyms: lang: en
text: CD332
lang: en
text: CEK3
lang: en
text: Crouzon syndrome
lang: en
text: ECT1
lang: en
text: K-SAM
lang: en
text: Pfeiffer syndrome
lang: en
text: TK14
lang: en
text: TK25
GeneType: Name: gene with protein product
Rare disease: Familial paroxysmal ataxia (Orphanet code 97)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 A
Symbol: CACNA1A
Synonyms: lang: en
text: APCA
lang: en
text: Cav2.1
lang: en
text: EA2
lang: en
text: FHM
lang: en
text: HPCA
GeneType: Name: gene with protein product
Rare disease: Recurrent Neisseria infections due to factor D deficiency (Orphanet code 169467)
Associated genes:
Name: complement factor D
Symbol: CFD
Synonyms: lang: en
text: ADN
lang: en
text: adipsin
GeneType: Name: gene with protein product
Rare disease: Lamellar ichthyosis (Orphanet code 313)
Associated genes:
Name: sulfotransferase family 2B member 1
Symbol: SULT2B1
Synonyms: lang: en
text: HSST2
GeneType: Name: gene with protein product
Name: aspartic peptidase retroviral like 1
Symbol: ASPRV1
Synonyms: lang: en
text: FLJ25084
lang: en
text: SASPase
lang: en
text: Skin ASpartic Protease
lang: en
text: Taps
GeneType: Name: gene with protein product
Name: short chain dehydrogenase/reductase family 9C member 7
Symbol: SDR9C7
Synonyms: lang: en
text: RDHS
lang: en
text: SDR-O
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily A member 12
Symbol: ABCA12
Synonyms: lang: en
text: DKFZP434G232
lang: en
text: LI2
GeneType: Name: gene with protein product
Name: arachidonate 12-lipoxygenase, 12R type
Symbol: ALOX12B
Synonyms: lang: en
text: 12R-LOX
lang: en
text: 12R-lipoxygenase
GeneType: Name: gene with protein product
Name: arachidonate lipoxygenase 3
Symbol: ALOXE3
Synonyms: lang: en
text: E-LOX
lang: en
text: Epidermal lipoxygenase-3
lang: en
text: eLOX3
lang: en
text: hydroperoxide isomerase
GeneType: Name: gene with protein product
Name: transglutaminase 1
Symbol: TGM1
Synonyms: lang: en
text: K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase
lang: en
text: LI
lang: en
text: LI1
lang: en
text: TGASE
lang: en
text: TGK
GeneType: Name: gene with protein product
Name: cytochrome P450 family 4 subfamily F member 22
Symbol: CYP4F22
Synonyms: lang: en
text: FLJ39501
GeneType: Name: gene with protein product
Name: NIPA like domain containing 4
Symbol: NIPAL4
Synonyms: lang: en
text: ICHYN
lang: en
text: NIPA4
lang: en
text: SLC57A6
lang: en
text: ichthyin
GeneType: Name: gene with protein product
Name: lipase family member N
Symbol: LIPN
Synonyms: lang: en
text: bA186O14.3
GeneType: Name: gene with protein product
Rare disease: Mild hemophilia B (Orphanet code 169799)
Associated genes:
Name: coagulation factor IX
Symbol: F9
Synonyms: lang: en
text: Christmas disease
lang: en
text: FIX
lang: en
text: Factor IX
lang: en
text: hemophilia B
lang: en
text: plasma thromboplastic component
GeneType: Name: gene with protein product
Rare disease: Moderate hemophilia B (Orphanet code 169796)
Associated genes:
Name: coagulation factor IX
Symbol: F9
Synonyms: lang: en
text: Christmas disease
lang: en
text: FIX
lang: en
text: Factor IX
lang: en
text: hemophilia B
lang: en
text: plasma thromboplastic component
GeneType: Name: gene with protein product
Rare disease: Severe hemophilia B (Orphanet code 169793)
Associated genes:
Name: coagulation factor IX
Symbol: F9
Synonyms: lang: en
text: Christmas disease
lang: en
text: FIX
lang: en
text: Factor IX
lang: en
text: hemophilia B
lang: en
text: plasma thromboplastic component
GeneType: Name: gene with protein product
Rare disease: Ocular albinism with late-onset sensorineural deafness (Orphanet code 1000)
Associated genes:
Name: adaptor related protein complex 3 subunit delta 1
Symbol: AP3D1
Synonyms: lang: en
text: ADTD
GeneType: Name: gene with protein product
Rare disease: Severe congenital nemaline myopathy (Orphanet code 171430)
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
Name: nebulin
Symbol: NEB
Synonyms: lang: en
text: NEB177D
lang: en
text: nemaline myopathy type 2
GeneType: Name: gene with protein product
Name: kelch like family member 40
Symbol: KLHL40
Synonyms: lang: en
text: NEM8
lang: en
text: SRYP
lang: en
text: Sarcosynapsin
lang: en
text: nemaline myopathy type 8
lang: en
text: sarcosynapsin
GeneType: Name: gene with protein product
Name: kelch like family member 41
Symbol: KLHL41
Synonyms: lang: en
text: Krp1
lang: en
text: SARCOSIN
lang: en
text: sarcomeric muscle protein
GeneType: Name: gene with protein product
Name: leiomodin 3
Symbol: LMOD3
GeneType: Name: gene with protein product
Rare disease: Intermediate nemaline myopathy (Orphanet code 171433)
Associated genes:
Name: tropomyosin 3
Symbol: TPM3
Synonyms: lang: en
text: TRK
GeneType: Name: gene with protein product
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
Name: nebulin
Symbol: NEB
Synonyms: lang: en
text: NEB177D
lang: en
text: nemaline myopathy type 2
GeneType: Name: gene with protein product
Name: kelch like family member 41
Symbol: KLHL41
Synonyms: lang: en
text: Krp1
lang: en
text: SARCOSIN
lang: en
text: sarcomeric muscle protein
GeneType: Name: gene with protein product
Rare disease: Typical nemaline myopathy (Orphanet code 171436)
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
Name: cofilin 2
Symbol: CFL2
Synonyms: lang: en
text: NEM7
lang: en
text: nemaline myopathy type 7
GeneType: Name: gene with protein product
Name: tropomyosin 2
Symbol: TPM2
Synonyms: lang: en
text: DA1
lang: en
text: NEM4
lang: en
text: nemaline myopathy type 4
GeneType: Name: gene with protein product
Name: nebulin
Symbol: NEB
Synonyms: lang: en
text: NEB177D
lang: en
text: nemaline myopathy type 2
GeneType: Name: gene with protein product
Name: kelch like family member 41
Symbol: KLHL41
Synonyms: lang: en
text: Krp1
lang: en
text: SARCOSIN
lang: en
text: sarcomeric muscle protein
GeneType: Name: gene with protein product
Name: leiomodin 3
Symbol: LMOD3
GeneType: Name: gene with protein product
Rare disease: Childhood-onset nemaline myopathy (Orphanet code 171439)
Associated genes:
Name: tropomyosin 2
Symbol: TPM2
Synonyms: lang: en
text: DA1
lang: en
text: NEM4
lang: en
text: nemaline myopathy type 4
GeneType: Name: gene with protein product
Name: myopalladin
Symbol: MYPN
Synonyms: lang: en
text: MYOP
lang: en
text: Sarcomeric protein myopalladin, 145 kDa
lang: en
text: sarcomeric protein myopalladin, 145 kDa
GeneType: Name: gene with protein product
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
Name: tropomyosin 3
Symbol: TPM3
Synonyms: lang: en
text: TRK
GeneType: Name: gene with protein product
Name: nebulin
Symbol: NEB
Synonyms: lang: en
text: NEB177D
lang: en
text: nemaline myopathy type 2
GeneType: Name: gene with protein product
Name: kelch repeat and BTB domain containing 13
Symbol: KBTBD13
Synonyms: lang: en
text: NEM6
lang: en
text: hCG_1645727
lang: en
text: nemaline myopathy type 6
GeneType: Name: gene with protein product
Name: kelch like family member 41
Symbol: KLHL41
Synonyms: lang: en
text: Krp1
lang: en
text: SARCOSIN
lang: en
text: sarcomeric muscle protein
GeneType: Name: gene with protein product
Rare disease: Muscle filaminopathy (Orphanet code 171445)
Associated genes:
Name: filamin C
Symbol: FLNC
Synonyms: lang: en
text: ABP-280
lang: en
text: ABPL
lang: en
text: actin binding protein 280
lang: en
text: gamma filamin
GeneType: Name: gene with protein product
Rare disease: X-linked spastic paraplegia type 34 (Orphanet code 171607)
Associated genes:
Name: spastic paraplegia 34 (autosomal dominant)
Symbol: SPG34
GeneType: Name: Disorder-associated locus
Rare disease: Bruck syndrome (Orphanet code 2771)
Associated genes:
Name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Symbol: PLOD2
Synonyms: lang: en
text: LH2
lang: en
text: TLH
lang: en
text: lysyl hydroxlase 2
lang: en
text: procollagen lysyl hydroxylase 2
lang: en
text: procollagen-lysine 5-dioxygenase
lang: en
text: telopeptidyl lysyl hydroxylase
GeneType: Name: gene with protein product
Name: FKBP prolyl isomerase 10
Symbol: FKBP10
Synonyms: lang: en
text: FKBP6
lang: en
text: FKBP65
lang: en
text: FLJ20683
lang: en
text: FLJ22041
lang: en
text: FLJ23833
lang: en
text: hFKBP65
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 37 (Orphanet code 171612)
Associated genes:
Name: spastic paraplegia 37 (autosomal dominant)
Symbol: SPG37
GeneType: Name: Disorder-associated locus
Name: karyopherin subunit alpha 3
Symbol: KPNA3
Synonyms: lang: en
text: IPOA4
lang: en
text: SRP1gamma
lang: en
text: SRP4
lang: en
text: hSRP1
lang: en
text: importin alpha 4
lang: en
text: importin subunit alpha-4
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 38 (Orphanet code 171617)
Associated genes:
Name: spastic paraplegia 38 (autosomal dominant, Silver syndrome)
Symbol: SPG38
GeneType: Name: Disorder-associated locus
Rare disease: Mitochondrial DNA-related cardiomyopathy and hearing loss (Orphanet code 1349)
Associated genes:
Name: mitochondrially encoded tRNA-Lys (AAA/G)
Symbol: MT-TK
Synonyms: lang: en
text: trnK
GeneType: Name: Non-coding RNA
Rare disease: Autosomal recessive spastic paraplegia type 32 (Orphanet code 171622)
Associated genes:
Name: spastic paraplegia 32 (autosomal recessive)
Symbol: SPG32
Synonyms: lang: en
text: SPG29
GeneType: Name: Disorder-associated locus
Rare disease: Autosomal recessive spastic paraplegia type 35 (Orphanet code 171629)
Associated genes:
Name: fatty acid 2-hydroxylase
Symbol: FA2H
Synonyms: lang: en
text: FAAH
lang: en
text: FLJ25287
lang: en
text: Fatty acid alpha-hydroxylase
lang: en
text: fatty acid hydroxylase
GeneType: Name: gene with protein product
Rare disease: Treacher-Collins syndrome (Orphanet code 861)
Associated genes:
Name: RNA polymerase I subunit B
Symbol: POLR1B
Synonyms: lang: en
text: FLJ10816
lang: en
text: FLJ21921
lang: en
text: RPA135
lang: en
text: RPA2
lang: en
text: Rpo1-2
GeneType: Name: gene with protein product
Name: treacle ribosome biogenesis factor 1
Symbol: TCOF1
Synonyms: lang: en
text: TCS
lang: en
text: treacle
GeneType: Name: gene with protein product
Name: RNA polymerase I and III subunit D
Symbol: POLR1D
Synonyms: lang: en
text: AC19
lang: en
text: MGC9850
lang: en
text: RPA16
lang: en
text: RPA9
lang: en
text: RPAC2
lang: en
text: RPO1-3
GeneType: Name: gene with protein product
Name: RNA polymerase I and III subunit C
Symbol: POLR1C
Synonyms: lang: en
text: AC40
lang: en
text: RPA39
lang: en
text: RPA40
lang: en
text: RPA5
lang: en
text: RPAC1
lang: en
text: RPC40
GeneType: Name: gene with protein product
Rare disease: Progressive myoclonic epilepsy type 1 (Orphanet code 308)
Associated genes:
Name: cystatin B
Symbol: CSTB
Synonyms: lang: en
text: CST6
lang: en
text: Epilepsy, progressive myoclonic 1
lang: en
text: PME
lang: en
text: stefin B
GeneType: Name: gene with protein product
Name: scavenger receptor class B member 2
Symbol: SCARB2
Synonyms: lang: en
text: HLGP85
lang: en
text: LIMP-2
lang: en
text: LIMPII
lang: en
text: SR-BII
lang: en
text: lysosomal integral membrane protein II
lang: en
text: lysosome membrane protein 2
GeneType: Name: gene with protein product
Name: prickle planar cell polarity protein 1
Symbol: PRICKLE1
Synonyms: lang: en
text: EPM1B
lang: en
text: FLJ31937
lang: en
text: REST/NRSF interacting LIM domain protein
lang: en
text: RILP
GeneType: Name: gene with protein product
Rare disease: Cornelia de Lange syndrome (Orphanet code 199)
Associated genes:
Name: structural maintenance of chromosomes 1A
Symbol: SMC1A
Synonyms: lang: en
text: DXS423E
lang: en
text: KIAA0178
lang: en
text: SB1.8
lang: en
text: Smcb
GeneType: Name: gene with protein product
Name: NIPBL cohesin loading factor
Symbol: NIPBL
Synonyms: lang: en
text: DKFZp434L1319
lang: en
text: FLJ11203
lang: en
text: FLJ12597
lang: en
text: FLJ13354
lang: en
text: FLJ13648
lang: en
text: IDN3
lang: en
text: Scc2
lang: en
text: sister chromatid cohesion 2 homolog (yeast)
GeneType: Name: gene with protein product
Name: structural maintenance of chromosomes 3
Symbol: SMC3
Synonyms: lang: en
text: BAM
lang: en
text: Bamacan
lang: en
text: HCAP
lang: en
text: SMC3L1
lang: en
text: bamacan
lang: en
text: bamacan proteoglycan
GeneType: Name: gene with protein product
Name: histone deacetylase 8
Symbol: HDAC8
Synonyms: lang: en
text: KDAC8
lang: en
text: RPD3
GeneType: Name: gene with protein product
Name: RAD21 cohesin complex component
Symbol: RAD21
Synonyms: lang: en
text: KIAA0078
lang: en
text: SCC1
lang: en
text: hHR21
lang: en
text: kleisin
lang: en
text: sister chromatid cohesion 1
GeneType: Name: gene with protein product
Name: bromodomain containing 4
Symbol: BRD4
Synonyms: lang: en
text: CAP
lang: en
text: FSHRG4
lang: en
text: HUNK1
lang: en
text: HUNKI
lang: en
text: MCAP
lang: en
text: chromosome-associated protein
lang: en
text: female sterile homeotic related gene 4
lang: en
text: mitotic chromosome-associated protein
GeneType: Name: gene with protein product
Rare disease: Idiopathic achalasia (Orphanet code 930)
Associated genes:
Name: cytokine receptor like factor 1
Symbol: CRLF1
Synonyms: lang: en
text: CISS
lang: en
text: CISS1
lang: en
text: CLF
lang: en
text: CLF-1
lang: en
text: cold-induced sweating syndrome
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DQ alpha 1
Symbol: HLA-DQA1
Synonyms: lang: en
text: CELIAC1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DQ beta 1
Symbol: HLA-DQB1
Synonyms: lang: en
text: CELIAC1
lang: en
text: IDDM1
GeneType: Name: gene with protein product
Name: nitric oxide synthase 1
Symbol: NOS1
Synonyms: lang: en
text: nNOS
GeneType: Name: gene with protein product
Rare disease: 22q11.2 duplication syndrome (Orphanet code 1727)
Associated genes:
Name: T-box transcription factor 1
Symbol: TBX1
Synonyms: lang: en
text: CATCH22
GeneType: Name: gene with protein product
Rare disease: Cernunnos-XLF deficiency (Orphanet code 169079)
Associated genes:
Name: non-homologous end joining factor 1
Symbol: NHEJ1
Synonyms: lang: en
text: Cernunnos
lang: en
text: FLJ12610
lang: en
text: XLF
lang: en
text: XRCC4-like factor
GeneType: Name: gene with protein product
Rare disease: CLAPO syndrome (Orphanet code 168984)
Associated genes:
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: Immunodeficiency due to CD25 deficiency (Orphanet code 169100)
Associated genes:
Name: interleukin 2 receptor subunit alpha
Symbol: IL2RA
Synonyms: lang: en
text: CD25
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to FOXN1 deficiency (Orphanet code 169095)
Associated genes:
Name: forkhead box N1
Symbol: FOXN1
Synonyms: lang: en
text: FKHL20
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to CD3gamma deficiency (Orphanet code 169082)
Associated genes:
Name: CD3 gamma subunit of T-cell receptor complex
Symbol: CD3G
Synonyms: lang: en
text: CD3-GAMMA
lang: en
text: CD3GAMMA
lang: en
text: T-cell surface glycoprotein CD3 gamma chain
GeneType: Name: gene with protein product
Rare disease: Susceptibility to respiratory infections associated with CD8alpha chain mutation (Orphanet code 169085)
Associated genes:
Name: CD8 subunit alpha
Symbol: CD8A
Synonyms: lang: en
text: CD8alpha
lang: en
text: p32
GeneType: Name: gene with protein product
Rare disease: Primary peritoneal carcinoma (Orphanet code 168829)
Associated genes:
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: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency (Orphanet code 753)
Associated genes:
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
Rare disease: Triose phosphate-isomerase deficiency (Orphanet code 868)
Associated genes:
Name: triosephosphate isomerase 1
Symbol: TPI1
GeneType: Name: gene with protein product
Rare disease: Darier disease (Orphanet code 218)
Associated genes:
Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Symbol: ATP2A2
Synonyms: lang: en
text: SERCA2
lang: en
text: calcium pump 2
lang: en
text: sarcoplasmic/endoplasmic reticulum calcium ATPase 2
GeneType: Name: gene with protein product
Rare disease: Heart-hand syndrome, Slovenian type (Orphanet code 168796)
Associated genes:
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Rare disease: Coffin-Siris syndrome (Orphanet code 1465)
Associated genes:
Name: AT-rich interaction domain 2
Symbol: ARID2
Synonyms: lang: en
text: BAF200
lang: en
text: DKFZp686G052
lang: en
text: FLJ30619
lang: en
text: KIAA1557
lang: en
text: SMARCF3
lang: en
text: ZIPZAP
lang: en
text: p200
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Symbol: SMARCB1
Synonyms: lang: en
text: BAF47
lang: en
text: INI-1
lang: en
text: Ini1
lang: en
text: PPP1R144
lang: en
text: RDT
lang: en
text: SNF5
lang: en
text: Sfh1p
lang: en
text: Snr1
lang: en
text: hSNFS
lang: en
text: integrase interactor 1
lang: en
text: malignant rhabdoid tumor suppressor
lang: en
text: protein phosphatase 1, regulatory subunit 144
lang: en
text: sucrose nonfermenting, yeast, homolog-like 1
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Symbol: SMARCA4
Synonyms: lang: en
text: ATP-dependent helicase SMARCA4
lang: en
text: BAF190
lang: en
text: BRG1
lang: en
text: BRM/SWI2-related gene 1
lang: en
text: FLJ39786
lang: en
text: SNF2
lang: en
text: SNF2-BETA
lang: en
text: SNF2-like 4
lang: en
text: SNF2LB
lang: en
text: SWI2
lang: en
text: brahma protein-like 1
lang: en
text: global transcription activator homologous sequence
lang: en
text: hSNF2b
lang: en
text: homeotic gene regulator
lang: en
text: mitotic growth and transcription activator
lang: en
text: nuclear protein GRB1
lang: en
text: sucrose nonfermenting-like 4
GeneType: Name: gene with protein product
Name: AT-rich interaction domain 1B
Symbol: ARID1B
Synonyms: lang: en
text: 6A3-5
lang: en
text: BAF250b
lang: en
text: DAN15
lang: en
text: ELD/OSA1
lang: en
text: KIAA1235
lang: en
text: SMARCF2
lang: en
text: p250R
GeneType: Name: gene with protein product
Name: AT-rich interaction domain 1A
Symbol: ARID1A
Synonyms: lang: en
text: B120
lang: en
text: BAF250
lang: en
text: BAF250a
lang: en
text: C10rf4
lang: en
text: P270
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Symbol: SMARCE1
Synonyms: lang: en
text: BAF57
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 11
Symbol: SOX11
Synonyms: lang: en
text: SRY-related HMG-box gene 11
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 4
Symbol: SOX4
GeneType: Name: gene with protein product
Name: double PHD fingers 2
Symbol: DPF2
Synonyms: lang: en
text: BAF45d
lang: en
text: SMARCG2
lang: en
text: ubi-d4
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Symbol: SMARCD1
Synonyms: lang: en
text: BAF60A
lang: en
text: CRACD1
lang: en
text: Rsc6p
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
Symbol: SMARCC2
Synonyms: lang: en
text: BAF170
lang: en
text: CRACC2
lang: en
text: Rsc8
GeneType: Name: gene with protein product
Rare disease: Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement (Orphanet code 168953)
Associated genes:
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Rare disease: Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement (Orphanet code 168950)
Associated genes:
Name: platelet derived growth factor receptor beta
Symbol: PDGFRB
Synonyms: lang: en
text: CD140b
lang: en
text: JTK12
lang: en
text: PDGFR1
GeneType: Name: gene with protein product
Rare disease: Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement (Orphanet code 168947)
Associated genes:
Name: platelet derived growth factor receptor alpha
Symbol: PDGFRA
Synonyms: lang: en
text: CD140a
lang: en
text: GAS9
lang: en
text: PDGFR2
GeneType: Name: gene with protein product
Rare disease: Chronic eosinophilic leukemia (Orphanet code 168940)
Associated genes:
Name: factor interacting with PAPOLA and CPSF1
Symbol: FIP1L1
Synonyms: lang: en
text: DKFZp586K0717
lang: en
text: FIP1
lang: en
text: hFip1
GeneType: Name: gene with protein product
Name: platelet derived growth factor receptor alpha
Symbol: PDGFRA
Synonyms: lang: en
text: CD140a
lang: en
text: GAS9
lang: en
text: PDGFR2
GeneType: Name: gene with protein product