TaoMedAI/RareMedData huggingface dataset:
Rare disease: Noonan syndrome (Orphanet code 648)
Associated genes:
Name: RAS related
Symbol: RRAS
Synonyms: lang: en
text: Oncogene RRAS
lang: en
text: R-Ras
lang: en
text: RRAS1
GeneType: Name: gene with protein product
Name: muscle RAS oncogene homolog
Symbol: MRAS
Synonyms: lang: en
text: M-RAs
lang: en
text: R-RAS3
lang: en
text: RRAS3
GeneType: Name: gene with protein product
Name: sprouty related EVH1 domain containing 2
Symbol: SPRED2
Synonyms: lang: en
text: FLJ21897
lang: en
text: FLJ31917
lang: en
text: Spred-2
GeneType: Name: gene with protein product
Name: RAS related 2
Symbol: RRAS2
Synonyms: lang: en
text: TC21
GeneType: Name: gene with protein product
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: Cbl proto-oncogene
Symbol: CBL
Synonyms: lang: en
text: RNF55
lang: en
text: c-Cbl
lang: en
text: oncogene CBL2
GeneType: Name: gene with protein product
Name: SOS Ras/Rac guanine nucleotide exchange factor 1
Symbol: SOS1
Synonyms: lang: en
text: GF1
lang: en
text: HGF
GeneType: Name: gene with protein product
Name: KRAS proto-oncogene, GTPase
Symbol: KRAS
Synonyms: lang: en
text: K-Ras4B
lang: en
text: KRAS1
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
Name: NRAS proto-oncogene, GTPase
Symbol: NRAS
Synonyms: lang: en
text: N-ras
GeneType: Name: gene with protein product
Name: Ras like without CAAX 1
Symbol: RIT1
Synonyms: lang: en
text: GTP-binding protein Roc1
lang: en
text: MGC125864
lang: en
text: MGC125865
lang: en
text: RIBB
lang: en
text: ROC1
lang: en
text: Ric-like, expressed in many tissues
GeneType: Name: gene with protein product
Name: leucine zipper like post translational regulator 1
Symbol: LZTR1
Synonyms: lang: en
text: BTBD29
lang: en
text: LZTR-1
GeneType: Name: gene with protein product
Name: RAS p21 protein activator 2
Symbol: RASA2
Synonyms: lang: en
text: GAP1M
lang: en
text: Ras GTPase-activating protein 2
GeneType: Name: gene with protein product
Name: SOS Ras/Rho guanine nucleotide exchange factor 2
Symbol: SOS2
GeneType: Name: gene with protein product
Rare disease: Monosomy 5p (Orphanet code 281)
Associated genes:
Name: semaphorin 5A
Symbol: SEMA5A
Synonyms: lang: en
text: semF
GeneType: Name: gene with protein product
Name: catenin delta 2
Symbol: CTNND2
Synonyms: lang: en
text: GT24
lang: en
text: NPRAP
lang: en
text: neural plakophilin-related arm-repeat protein
lang: en
text: neurojungin
GeneType: Name: gene with protein product
Rare disease: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (Orphanet code 752)
Associated genes:
Name: hydroxysteroid 17-beta dehydrogenase 3
Symbol: HSD17B3
Synonyms: lang: en
text: SDR12C2
lang: en
text: short chain dehydrogenase/reductase family 12C, member 2
GeneType: Name: gene with protein product
Rare disease: Lesch-Nyhan syndrome (Orphanet code 510)
Associated genes:
Name: hypoxanthine phosphoribosyltransferase 1
Symbol: HPRT1
Synonyms: lang: en
text: HGPRT
lang: en
text: Lesch-Nyhan syndrome
lang: en
text: hypoxanthine guanine phosphoribosyl transferase
GeneType: Name: gene with protein product
Rare disease: Li-Fraumeni syndrome (Orphanet code 524)
Associated genes:
Name: cyclin dependent kinase inhibitor 2A
Symbol: CDKN2A
Synonyms: lang: en
text: ARF
lang: en
text: CAI2
lang: en
text: CDK4I
lang: en
text: CDKN2A/ARF Intron 2 lncRNA
lang: en
text: CMM2
lang: en
text: INK4
lang: en
text: INK4a
lang: en
text: MTS1
lang: en
text: P16-INK4A
lang: en
text: cyclin-dependent kinase 4 inhibitor A
lang: en
text: inhibitor of cdk4 A
lang: en
text: multiple tumour suppressor 1
lang: en
text: p14
lang: en
text: p14 alternate open reading frame
lang: en
text: p14ARF
lang: en
text: p16
lang: en
text: p16INK4a
lang: en
text: p19
lang: en
text: p19 alternate open reading frame
lang: en
text: p19Arf
GeneType: Name: gene with protein product
Name: MDM2 proto-oncogene
Symbol: MDM2
Synonyms: lang: en
text: HDM2
lang: en
text: MGC5370
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: 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
Rare disease: Hereditary neuropathy with liability to pressure palsies (Orphanet code 640)
Associated genes:
Name: peripheral myelin protein 22
Symbol: PMP22
Synonyms: lang: en
text: GAS3
lang: en
text: HMSNIA
lang: en
text: HNPP
lang: en
text: Sp110
GeneType: Name: gene with protein product
Name: peripheral myelin protein 22
Symbol: PMP22
Synonyms: lang: en
text: GAS3
lang: en
text: HMSNIA
lang: en
text: HNPP
lang: en
text: Sp110
GeneType: Name: gene with protein product
Rare disease: Alpha-1-antitrypsin deficiency (Orphanet code 60)
Associated genes:
Name: serpin family A member 1
Symbol: SERPINA1
Synonyms: lang: en
text: A1A
lang: en
text: A1AT
lang: en
text: AAT
lang: en
text: PI1
lang: en
text: alpha-1 antitrypsin
lang: en
text: alpha-1 proteinase inhibitor
lang: en
text: alpha-1-antitrypsin
lang: en
text: alpha1AT
lang: en
text: anti-elastase
lang: en
text: protease inhibitor 1
lang: en
text: protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
GeneType: Name: gene with protein product
Rare disease: Waardenburg syndrome type 2 (Orphanet code 895)
Associated genes:
Name: KIT ligand
Symbol: KITLG
Synonyms: lang: en
text: DFNA69
lang: en
text: FPH2
lang: en
text: KL-1
lang: en
text: Kitl
lang: en
text: SCF
lang: en
text: SF
lang: en
text: SLF
lang: en
text: familial progressive hyperpigmentation 2
lang: en
text: mast cell growth factor
lang: en
text: steel factor
lang: en
text: stem cell factor
GeneType: Name: gene with protein product
Name: tyrosinase
Symbol: TYR
Synonyms: lang: en
text: OCA1
lang: en
text: OCA1A
lang: en
text: OCAIA
lang: en
text: oculocutaneous albinism IA
GeneType: Name: gene with protein product
Name: snail family transcriptional repressor 2
Symbol: SNAI2
Synonyms: lang: en
text: SLUGH
lang: en
text: SLUGH1
lang: en
text: SNAIL2
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 10
Symbol: SOX10
Synonyms: lang: en
text: DOM
lang: en
text: SOX-10
lang: en
text: WS2E
lang: en
text: WS4
lang: en
text: dominant megacolon, mouse, human homolog of
GeneType: Name: gene with protein product
Name: melanocyte inducing transcription factor
Symbol: MITF
Synonyms: lang: en
text: MI
lang: en
text: bHLHe32
lang: en
text: homolog of mouse microphthalmia
GeneType: Name: gene with protein product
Name: endothelin receptor type B
Symbol: EDNRB
Synonyms: lang: en
text: ETB
GeneType: Name: gene with protein product
Rare disease: Waardenburg syndrome type 3 (Orphanet code 896)
Associated genes:
Name: paired box 3
Symbol: PAX3
Synonyms: lang: en
text: HUP2
lang: en
text: PAX-3
GeneType: Name: gene with protein product
Rare disease: Townes-Brocks syndrome (Orphanet code 857)
Associated genes:
Name: spalt like transcription factor 1
Symbol: SALL1
Synonyms: lang: en
text: Hsal1
lang: en
text: ZNF794
GeneType: Name: gene with protein product
Name: dishevelled binding antagonist of beta catenin 1
Symbol: DACT1
Synonyms: lang: en
text: DAPPER
lang: en
text: DAPPER1
lang: en
text: FRODO
lang: en
text: HDPR1
lang: en
text: THYEX3
GeneType: Name: gene with protein product
Rare disease: Waardenburg syndrome type 1 (Orphanet code 894)
Associated genes:
Name: paired box 3
Symbol: PAX3
Synonyms: lang: en
text: HUP2
lang: en
text: PAX-3
GeneType: Name: gene with protein product
Rare disease: Hyperkalemic periodic paralysis (Orphanet code 682)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 4
Symbol: SCN4A
Synonyms: lang: en
text: HYPP
lang: en
text: Nav1.4
lang: en
text: SkM1
GeneType: Name: gene with protein product
Rare disease: Schwartz-Jampel syndrome (Orphanet code 800)
Associated genes:
Name: heparan sulfate proteoglycan 2
Symbol: HSPG2
Synonyms: lang: en
text: PRCAN
lang: en
text: endorepellin
lang: en
text: perlecan
lang: en
text: perlecan proteoglycan
GeneType: Name: gene with protein product
Rare disease: Diastrophic dysplasia (Orphanet code 628)
Associated genes:
Name: solute carrier family 26 member 2
Symbol: SLC26A2
Synonyms: lang: en
text: DTDST
lang: en
text: diastrophic dysplasia sulfate transporter
GeneType: Name: gene with protein product
Rare disease: Hypokalemic periodic paralysis (Orphanet code 681)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 4
Symbol: SCN4A
Synonyms: lang: en
text: HYPP
lang: en
text: Nav1.4
lang: en
text: SkM1
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 S
Symbol: CACNA1S
Synonyms: lang: en
text: Cav1.1
lang: en
text: hypoPP
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily E regulatory subunit 3
Symbol: KCNE3
Synonyms: lang: en
text: HOKPP
lang: en
text: MiRP2
GeneType: Name: gene with protein product
Rare disease: BOR syndrome (Orphanet code 107)
Associated genes:
Name: SIX homeobox 1
Symbol: SIX1
GeneType: Name: gene with protein product
Name: EYA transcriptional coactivator and phosphatase 1
Symbol: EYA1
GeneType: Name: gene with protein product
Name: SIX homeobox 5
Symbol: SIX5
GeneType: Name: gene with protein product
Rare disease: Hereditary hemorrhagic telangiectasia (Orphanet code 774)
Associated genes:
Name: activin A receptor like type 1
Symbol: ACVRL1
Synonyms: lang: en
text: ALK1
lang: en
text: HHT
lang: en
text: HHT2
lang: en
text: activin receptor-like kinase 1
GeneType: Name: gene with protein product
Name: SMAD family member 4
Symbol: SMAD4
Synonyms: lang: en
text: DPC4
GeneType: Name: gene with protein product
Name: endoglin
Symbol: ENG
Synonyms: lang: en
text: CD105
lang: en
text: END
lang: en
text: HHT1
GeneType: Name: gene with protein product
Name: growth differentiation factor 2
Symbol: GDF2
Synonyms: lang: en
text: BMP-9
lang: en
text: BMP9
GeneType: Name: gene with protein product
Rare disease: Saethre-Chotzen syndrome (Orphanet code 794)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
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
Name: twist family bHLH transcription factor 1
Symbol: TWIST1
Synonyms: lang: en
text: BPES2
lang: en
text: CRS1
lang: en
text: H-twist
lang: en
text: SCS
lang: en
text: Saethre-Chotzen syndrome
lang: en
text: bHLHa38
GeneType: Name: gene with protein product
Rare disease: Peutz-Jeghers syndrome (Orphanet code 2869)
Associated genes:
Name: serine/threonine kinase 11
Symbol: STK11
Synonyms: lang: en
text: LKB1
lang: en
text: PJS
lang: en
text: polarization-related protein LKB1
GeneType: Name: gene with protein product
Rare disease: WAGR syndrome (Orphanet code 893)
Associated genes:
Name: WT1 transcription factor
Symbol: WT1
Synonyms: lang: en
text: AWT1
lang: en
text: NPHS4
lang: en
text: WAGR
lang: en
text: WIT-2
lang: en
text: WT-1
GeneType: Name: gene with protein product
Name: paired box 6
Symbol: PAX6
Synonyms: lang: en
text: AN
lang: en
text: Aniridia 1
lang: en
text: Aniridia 2
lang: en
text: D11S812E
lang: en
text: WAGR
lang: en
text: aniridia, keratitis
GeneType: Name: gene with protein product
Name: brain derived neurotrophic factor
Symbol: BDNF
Synonyms: lang: en
text: neurotrophin
GeneType: Name: gene with protein product
Rare disease: Zellweger syndrome (Orphanet code 912)
Associated genes:
Name: peroxisomal biogenesis factor 11 beta
Symbol: PEX11B
Synonyms: lang: en
text: PEX11beta
lang: en
text: Peroxisomal membrane protein 11B
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 2
Symbol: PEX2
Synonyms: lang: en
text: PAF-1
lang: en
text: PMP35
lang: en
text: RNF72
lang: en
text: ZWS3
lang: en
text: Zellweger syndrome
lang: en
text: peroxin 2
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 1
Symbol: PEX1
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 10
Symbol: PEX10
Synonyms: lang: en
text: RNF69
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 12
Symbol: PEX12
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 13
Symbol: PEX13
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 14
Symbol: PEX14
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 16
Symbol: PEX16
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 19
Symbol: PEX19
Synonyms: lang: en
text: D1S2223E
lang: en
text: HK33
lang: en
text: PMP1
lang: en
text: PMPI
lang: en
text: PXMP1
lang: en
text: housekeeping gene, 33kD
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 26
Symbol: PEX26
Synonyms: lang: en
text: FLJ20695
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 3
Symbol: PEX3
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 5
Symbol: PEX5
Synonyms: lang: en
text: PTS1R
lang: en
text: peroxisomal import receptor 5
lang: en
text: peroxisomal targeting signal 1 receptor
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 6
Symbol: PEX6
Synonyms: lang: en
text: PAF-2
lang: en
text: PXAAA1
GeneType: Name: gene with protein product
Rare disease: Albers-Schönberg osteopetrosis (Orphanet code 53)
Associated genes:
Name: chloride voltage-gated channel 7
Symbol: CLCN7
Synonyms: lang: en
text: CLC-7
lang: en
text: CLC7
lang: en
text: ClC-7
lang: en
text: OPTA2
lang: en
text: PPP1R63
lang: en
text: protein phosphatase 1, regulatory subunit 63
GeneType: Name: gene with protein product
Rare disease: Abetalipoproteinemia (Orphanet code 14)
Associated genes:
Name: microsomal triglyceride transfer protein
Symbol: MTTP
Synonyms: lang: en
text: ABL
GeneType: Name: gene with protein product
Rare disease: Chédiak-Higashi syndrome (Orphanet code 167)
Associated genes:
Name: lysosomal trafficking regulator
Symbol: LYST
Synonyms: lang: en
text: CHS
lang: en
text: Mauve
GeneType: Name: gene with protein product
Rare disease: Crouzon syndrome (Orphanet code 207)
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
Name: ETS2 repressor factor
Symbol: ERF
Synonyms: lang: en
text: PE-2
lang: en
text: PE2
GeneType: Name: gene with protein product
Rare disease: Cowden syndrome (Orphanet code 201)
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: upstream transcription factor family member 3
Symbol: USF3
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
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 subunit C
Symbol: SDHC
Synonyms: lang: en
text: CYB560
lang: en
text: cybL
lang: en
text: large subunit of cytochrome b
lang: en
text: succinate dehydrgenase cytochrome b
lang: en
text: succinate dehydrogenase cytochrome b560 subunit
GeneType: Name: gene with protein product
Name: SEC23 homolog B, COPII coat complex component
Symbol: SEC23B
Synonyms: lang: en
text: CDA-II
lang: en
text: CDAII
lang: en
text: HEMPAS
GeneType: Name: gene with protein product
Name: AKT serine/threonine kinase 1
Symbol: AKT1
Synonyms: lang: en
text: AKT
lang: en
text: PKB
lang: en
text: PRKBA
lang: en
text: RAC
lang: en
text: RAC-alpha
lang: en
text: protein kinase B
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
Rare disease: Coffin-Lowry syndrome (Orphanet code 192)
Associated genes:
Name: ribosomal protein S6 kinase A3
Symbol: RPS6KA3
Synonyms: lang: en
text: HU-3
lang: en
text: RSK
lang: en
text: RSK2
GeneType: Name: gene with protein product
Rare disease: Mild hemophilia A (Orphanet code 169808)
Associated genes:
Name: coagulation factor VIII
Symbol: F8
Synonyms: lang: en
text: DXS1253E
lang: en
text: FVIII
lang: en
text: Factor VIIIF8B
lang: en
text: HEMA
lang: en
text: hemophilia A
GeneType: Name: gene with protein product
Rare disease: Severe hemophilia A (Orphanet code 169802)
Associated genes:
Name: coagulation factor VIII
Symbol: F8
Synonyms: lang: en
text: DXS1253E
lang: en
text: FVIII
lang: en
text: Factor VIIIF8B
lang: en
text: HEMA
lang: en
text: hemophilia A
GeneType: Name: gene with protein product
Rare disease: Moderate hemophilia A (Orphanet code 169805)
Associated genes:
Name: coagulation factor VIII
Symbol: F8
Synonyms: lang: en
text: DXS1253E
lang: en
text: FVIII
lang: en
text: Factor VIIIF8B
lang: en
text: HEMA
lang: en
text: hemophilia A
GeneType: Name: gene with protein product
Rare disease: McCune-Albright syndrome (Orphanet code 562)
Associated genes:
Name: GNAS complex locus
Symbol: GNAS
Synonyms: lang: en
text: G protein subunit alpha S
lang: en
text: GNASXL
lang: en
text: GPSA
lang: en
text: NESP
lang: en
text: NESP55
lang: en
text: SCG6
lang: en
text: SgVI
lang: en
text: secretogranin VI
GeneType: Name: gene with protein product
Rare disease: Menkes disease (Orphanet code 565)
Associated genes:
Name: ATPase copper transporting alpha
Symbol: ATP7A
Synonyms: lang: en
text: copper pump 1
lang: en
text: copper-transporting ATPase 1
GeneType: Name: gene with protein product
Rare disease: Jeune syndrome (Orphanet code 474)
Associated genes:
Name: KIAA0753
Symbol: KIAA0753
Synonyms: lang: en
text: MNR
lang: en
text: OFD1 and FOPNL interacting protein
lang: en
text: OFD1 and FOR20 interacting protein
lang: en
text: OFIP
lang: en
text: moonraker
GeneType: Name: gene with protein product
Name: dynein cytoplasmic 2 light intermediate chain 1
Symbol: DYNC2LI1
Synonyms: lang: en
text: CGI-60
lang: en
text: D2LIC
lang: en
text: DKFZP564A033
lang: en
text: LIC3
GeneType: Name: gene with protein product
Name: intraflagellar transport 80
Symbol: IFT80
Synonyms: lang: en
text: CFAP167
lang: en
text: FAP167
lang: en
text: KIAA1374
GeneType: Name: gene with protein product
Name: dynein cytoplasmic 2 heavy chain 1
Symbol: DYNC2H1
Synonyms: lang: en
text: DHC1b
lang: en
text: DHC2
lang: en
text: DYH1B
lang: en
text: hdhc11
GeneType: Name: gene with protein product
Name: tetratricopeptide repeat domain 21B
Symbol: TTC21B
Synonyms: lang: en
text: CFAP60
lang: en
text: FAP60
lang: en
text: FLA17
lang: en
text: FLJ11457
lang: en
text: IFT139
lang: en
text: IFT139B
lang: en
text: JBTS11
lang: en
text: NPHP12
lang: en
text: Nephronophthisis type12
lang: en
text: THM1
lang: en
text: intraflagellar transport 139 homolog
lang: en
text: tetratricopeptide repeat-containing hedgehog modulator-1
GeneType: Name: gene with protein product
Name: WD repeat domain 19
Symbol: WDR19
Synonyms: lang: en
text: CFAP66
lang: en
text: DYF-2
lang: en
text: FAP66
lang: en
text: FLJ23127
lang: en
text: IFT144
lang: en
text: KIAA1638
lang: en
text: NPHP13
lang: en
text: ORF26
lang: en
text: Oseg6
lang: en
text: Pwdmp
lang: en
text: intraflagellar transport 144 homolog (Chlamydomonas)
GeneType: Name: gene with protein product
Name: intraflagellar transport 140
Symbol: IFT140
Synonyms: lang: en
text: KIAA0590
lang: en
text: gs114
GeneType: Name: gene with protein product
Name: dynein 2 intermediate chain 1
Symbol: DYNC2I1
Synonyms: lang: en
text: CFAP163
lang: en
text: DIC6
lang: en
text: FAP163
lang: en
text: FLJ10300
GeneType: Name: gene with protein product
Name: intraflagellar transport 172
Symbol: IFT172
Synonyms: lang: en
text: BBS20
lang: en
text: NPHP17
lang: en
text: SLB
lang: en
text: osm-1
lang: en
text: wim
lang: en
text: wimple homolog
GeneType: Name: gene with protein product
Name: dynein 2 intermediate chain 2
Symbol: DYNC2I2
Synonyms: lang: en
text: CFAP133
lang: en
text: DIC5
lang: en
text: FAP133
lang: en
text: MGC20486
lang: en
text: bA216B9.3
GeneType: Name: gene with protein product
Name: centrosomal protein 120
Symbol: CEP120
Synonyms: lang: en
text: FLJ36090
GeneType: Name: gene with protein product
Rare disease: Familial hemophagocytic lymphohistiocytosis (Orphanet code 540)
Associated genes:
Name: perforin 1
Symbol: PRF1
Synonyms: lang: en
text: HPLH2
lang: en
text: P1
lang: en
text: PFP
lang: en
text: Perforin
lang: en
text: perforin 1 (preforming protein)
GeneType: Name: gene with protein product
Name: syntaxin 11
Symbol: STX11
GeneType: Name: gene with protein product
Name: unc-13 homolog D
Symbol: UNC13D
Synonyms: lang: en
text: Munc13-4
GeneType: Name: gene with protein product
Name: syntaxin binding protein 2
Symbol: STXBP2
Synonyms: lang: en
text: Hunc18b
lang: en
text: MUNC18-2
lang: en
text: UNC18B
lang: en
text: Unc18-2
GeneType: Name: gene with protein product
Rare disease: Microphthalmia, Lenz type (Orphanet code 568)
Associated genes:
Name: BCL6 corepressor
Symbol: BCOR
Synonyms: lang: en
text: BCL-6 coreceptor
lang: en
text: BCL6 interacting corepressor
lang: en
text: FLJ20285
lang: en
text: KIAA1575
GeneType: Name: gene with protein product
Name: N-alpha-acetyltransferase 10, NatA catalytic subunit
Symbol: NAA10
Synonyms: lang: en
text: DXS707
lang: en
text: TE2
lang: en
text: arrest defective protein 1
GeneType: Name: gene with protein product
Rare disease: Ellis Van Creveld syndrome (Orphanet code 289)
Associated genes:
Name: dynein cytoplasmic 2 light intermediate chain 1
Symbol: DYNC2LI1
Synonyms: lang: en
text: CGI-60
lang: en
text: D2LIC
lang: en
text: DKFZP564A033
lang: en
text: LIC3
GeneType: Name: gene with protein product
Name: GLI family zinc finger 1
Symbol: GLI1
GeneType: Name: gene with protein product
Name: EvC ciliary complex subunit 2
Symbol: EVC2
Synonyms: lang: en
text: LBN
lang: en
text: limbin
GeneType: Name: gene with protein product
Name: EvC ciliary complex subunit 1
Symbol: EVC
Synonyms: lang: en
text: DWF-1
lang: en
text: EVC1
GeneType: Name: gene with protein product
Name: protein kinase cAMP-activated catalytic subunit alpha
Symbol: PRKACA
Synonyms: lang: en
text: PKA C-alpha
lang: en
text: PKACa
lang: en
text: cAMP-dependent protein kinase catalytic subunit alpha
GeneType: Name: gene with protein product
Name: protein kinase cAMP-activated catalytic subunit beta
Symbol: PRKACB
Synonyms: lang: en
text: PKA C-beta
lang: en
text: PKACb
lang: en
text: cAMP-dependent protein kinase catalytic subunit beta
GeneType: Name: gene with protein product
Rare disease: Laminin subunit alpha 2-related congenital muscular dystrophy (Orphanet code 258)
Associated genes:
Name: laminin subunit alpha 2
Symbol: LAMA2
Synonyms: lang: en
text: congenital muscular dystrophy
lang: en
text: merosin
GeneType: Name: gene with protein product