TaoMedAI/RareMedData huggingface dataset:
Rare disease: Meningioma (Orphanet code 2495)
Associated genes:
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: platelet derived growth factor subunit B
Symbol: PDGFB
Synonyms: lang: en
text: SSV
lang: en
text: becaplermin
lang: en
text: oncogene SIS
GeneType: Name: gene with protein product
Name: SUFU negative regulator of hedgehog signaling
Symbol: SUFU
Synonyms: lang: en
text: PRO1280
lang: en
text: SUFUH
lang: en
text: SUFUXL
GeneType: Name: gene with protein product
Name: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
Symbol: NF2
Synonyms: lang: en
text: ACN
lang: en
text: BANF
lang: en
text: Merlin
lang: en
text: SCH
lang: en
text: bilateral acoustic neurofibromatosis
lang: en
text: merlin
lang: en
text: merlin-1
lang: en
text: moesin-ezrin-radixin like
lang: en
text: schwannomin
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: 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: telomerase reverse transcriptase
Symbol: TERT
Synonyms: lang: en
text: EST2
lang: en
text: TCS1
lang: en
text: TP2
lang: en
text: TRT
lang: en
text: hEST2
GeneType: Name: gene with protein product
Name: BRCA1 associated protein 1
Symbol: BAP1
Synonyms: lang: en
text: KIAA0272
lang: en
text: UCHL2
lang: en
text: hucep-6
lang: en
text: ubiquitin carboxy-terminal hydrolase
GeneType: Name: gene with protein product
Name: BRCA1 associated protein 1
Symbol: BAP1
Synonyms: lang: en
text: KIAA0272
lang: en
text: UCHL2
lang: en
text: hucep-6
lang: en
text: ubiquitin carboxy-terminal hydrolase
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: TNF receptor associated factor 7
Symbol: TRAF7
Synonyms: lang: en
text: DKFZp586I021
lang: en
text: MGC7807
lang: en
text: RNF119
GeneType: Name: gene with protein product
Name: smoothened, frizzled class receptor
Symbol: SMO
Synonyms: lang: en
text: FZD11
lang: en
text: frizzled family member 11
GeneType: Name: gene with protein product
Rare disease: Familial or sporadic hemiplegic migraine (Orphanet code 569)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 1
Symbol: SCN1A
Synonyms: lang: en
text: GEFSP2
lang: en
text: HBSCI
lang: en
text: NAC1
lang: en
text: Nav1.1
lang: en
text: SMEI
GeneType: Name: gene with protein product
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
Name: ATPase Na+/K+ transporting subunit alpha 2
Symbol: ATP1A2
Synonyms: lang: en
text: FHM2
lang: en
text: sodium pump subunit alpha-2
lang: en
text: sodium-potassium ATPase catalytic subunit alpha-2
lang: en
text: sodium/potassium-transporting ATPase subunit alpha-2
GeneType: Name: gene with protein product
Name: proline rich transmembrane protein 2
Symbol: PRRT2
Synonyms: lang: en
text: DKFZp547J199
lang: en
text: DSPB3
lang: en
text: EKD1
lang: en
text: Episodic kinesigenic dyskinesia 1
lang: en
text: FICCA
lang: en
text: FLJ25513
lang: en
text: IFITMD1
lang: en
text: Interferon induced transmembrane protein domain containing 1
lang: en
text: PKC
lang: en
text: Paroxysmal kinesigenic dyskinesia
lang: en
text: dispanin subfamily B member 3
lang: en
text: interferon induced transmembrane protein domain containing 1
GeneType: Name: gene with protein product
Rare disease: Léri-Weill dyschondrosteosis (Orphanet code 240)
Associated genes:
Name: SHOX homeobox
Symbol: SHOX
Synonyms: lang: en
text: GCFX
lang: en
text: PHOG
lang: en
text: SHOX1
lang: en
text: SHOXY
lang: en
text: SS
lang: en
text: pseudoautosomal homeobox-containing osteogenic gene
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spondylocostal dysostosis (Orphanet code 2311)
Associated genes:
Name: delta like canonical Notch ligand 3
Symbol: DLL3
Synonyms: lang: en
text: SCDO1
GeneType: Name: gene with protein product
Name: mesoderm posterior bHLH transcription factor 2
Symbol: MESP2
Synonyms: lang: en
text: SCDO2
lang: en
text: bHLHc6
GeneType: Name: gene with protein product
Name: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Symbol: LFNG
Synonyms: lang: en
text: SCDO3
GeneType: Name: gene with protein product
Name: hes family bHLH transcription factor 7
Symbol: HES7
Synonyms: lang: en
text: bHLH factor Hes7
lang: en
text: bHLHb37
GeneType: Name: gene with protein product
Name: ripply transcriptional repressor 2
Symbol: RIPPLY2
Synonyms: lang: en
text: dJ237I15.1
GeneType: Name: gene with protein product
Rare disease: Gitelman syndrome (Orphanet code 358)
Associated genes:
Name: solute carrier family 12 member 3
Symbol: SLC12A3
Synonyms: lang: en
text: NCC
lang: en
text: NCCT
lang: en
text: Na-Cl symporter
lang: en
text: TSC
lang: en
text: Thiazide-sensitive sodium-chloride cotransporter
lang: en
text: sodium-chloride co-transporter
GeneType: Name: gene with protein product
Name: chloride voltage-gated channel Kb
Symbol: CLCNKB
Synonyms: lang: en
text: CLCKB
lang: en
text: Chloride channel protein ClC-Kb
lang: en
text: ClC-K2
lang: en
text: ClC-Kb
lang: en
text: hClC-Kb
GeneType: Name: gene with protein product
Rare disease: 46,XY complete gonadal dysgenesis (Orphanet code 242)
Associated genes:
Name: DEAH-box helicase 37
Symbol: DHX37
Synonyms: lang: en
text: Dhr1
lang: en
text: KIAA1517
lang: en
text: MGC2695
lang: en
text: MGC4322
GeneType: Name: gene with protein product
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: SRY-box transcription factor 9
Symbol: SOX9
Synonyms: lang: en
text: SRA1
GeneType: Name: gene with protein product
Name: sex determining region Y
Symbol: SRY
Synonyms: lang: en
text: TDF
lang: en
text: testis-determining factor
GeneType: Name: gene with protein product
Name: desert hedgehog signaling molecule
Symbol: DHH
Synonyms: lang: en
text: HHG-3
lang: en
text: MGC35145
GeneType: Name: gene with protein product
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: nuclear receptor subfamily 0 group B member 1
Symbol: NR0B1
Synonyms: lang: en
text: AHCH
lang: en
text: DAX1
GeneType: Name: gene with protein product
Name: chromobox 2
Symbol: CBX2
Synonyms: lang: en
text: M33
lang: en
text: MGC10561
lang: en
text: Pc class homolog (Drosophila)
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase kinase kinase 1
Symbol: MAP3K1
Synonyms: lang: en
text: MAPKKK1
lang: en
text: MEKK
GeneType: Name: gene with protein product
Name: doublesex and mab-3 related transcription factor 1
Symbol: DMRT1
Synonyms: lang: en
text: CT154
lang: en
text: DM domain expressed in testis 1
lang: en
text: DMT1
GeneType: Name: gene with protein product
Rare disease: Fraser syndrome (Orphanet code 2052)
Associated genes:
Name: Fraser extracellular matrix complex subunit 1
Symbol: FRAS1
Synonyms: lang: en
text: FLJ14927
lang: en
text: FLJ22031
lang: en
text: KIAA1500
GeneType: Name: gene with protein product
Name: FRAS1 related extracellular matrix 2
Symbol: FREM2
Synonyms: lang: en
text: DKFZp686J0811
GeneType: Name: gene with protein product
Name: glutamate receptor interacting protein 1
Symbol: GRIP1
GeneType: Name: gene with protein product
Rare disease: Carey-Fineman-Ziter syndrome (Orphanet code 1358)
Associated genes:
Name: myomixer, myoblast fusion factor
Symbol: MYMX
Synonyms: lang: en
text: MINION
lang: en
text: microprotein inducer of fusion
lang: en
text: myomerger
GeneType: Name: gene with protein product
Name: myomaker, myoblast fusion factor
Symbol: MYMK
Synonyms: lang: en
text: MYOMAKER
lang: en
text: TMEM226
lang: en
text: transmembrane protein 226
GeneType: Name: gene with protein product
Rare disease: Barth syndrome (Orphanet code 111)
Associated genes:
Name: tafazzin, phospholipid-lysophospholipid transacylase
Symbol: TAFAZZIN
Synonyms: lang: en
text: BTHS
lang: en
text: Barth syndrome
lang: en
text: G4.5
lang: en
text: TAZ1
lang: en
text: XAP-2
lang: en
text: transcriptional coactivator with PDZ-binding motif
GeneType: Name: gene with protein product
Rare disease: C syndrome (Orphanet code 1308)
Associated genes:
Name: CD96 molecule
Symbol: CD96
Synonyms: lang: en
text: T cell activation, increased late expression
lang: en
text: T-cell surface protein tactile
lang: en
text: TACTILE
GeneType: Name: gene with protein product
Rare disease: Nasopharyngeal carcinoma (Orphanet code 150)
Associated genes:
Name: NFKB inhibitor alpha
Symbol: NFKBIA
Synonyms: lang: en
text: IKBA
lang: en
text: IkappaBalpha
lang: en
text: MAD-3
lang: en
text: NF-kappa-B inhibitor alpha
GeneType: Name: gene with protein product
Rare disease: Chronic beryllium disease (Orphanet code 133)
Associated genes:
Name: major histocompatibility complex, class II, DP beta 1
Symbol: HLA-DPB1
GeneType: Name: gene with protein product
Rare disease: Currarino syndrome (Orphanet code 1552)
Associated genes:
Name: motor neuron and pancreas homeobox 1
Symbol: MNX1
Synonyms: lang: en
text: HB9
lang: en
text: HOXHB9
lang: en
text: SCRA1
GeneType: Name: gene with protein product
Rare disease: Familial multiple nevi flammei (Orphanet code 624)
Associated genes:
Name: G protein subunit alpha q
Symbol: GNAQ
Synonyms: lang: en
text: G-ALPHA-q
lang: en
text: GAQ
GeneType: Name: gene with protein product
Rare disease: Familial peripheral male-limited precocious puberty (Orphanet code 3000)
Associated genes:
Name: luteinizing hormone/choriogonadotropin receptor
Symbol: LHCGR
Synonyms: lang: en
text: LCGR
lang: en
text: LGR2
lang: en
text: LHR
lang: en
text: ULG5
lang: en
text: luteinizing hormone receptor
GeneType: Name: gene with protein product
Rare disease: Ablepharon macrostomia syndrome (Orphanet code 920)
Associated genes:
Name: twist family bHLH transcription factor 2
Symbol: TWIST2
Synonyms: lang: en
text: DERMO1
lang: en
text: Dermo-1
lang: en
text: bHLHa39
GeneType: Name: gene with protein product
Rare disease: 3C syndrome (Orphanet code 7)
Associated genes:
Name: VPS35 endosomal protein sorting factor like
Symbol: VPS35L
Synonyms: lang: en
text: MGC16824
GeneType: Name: gene with protein product
Name: dihydropyrimidinase like 5
Symbol: DPYSL5
Synonyms: lang: en
text: CRAM
lang: en
text: CRMP-5
lang: en
text: CRMP5
lang: en
text: CV2
lang: en
text: Ulip6
lang: en
text: collapsin response mediator protein 5
GeneType: Name: gene with protein product
Name: WASH complex subunit 5
Symbol: WASHC5
Synonyms: lang: en
text: strumpellin
GeneType: Name: gene with protein product
Name: coiled-coil domain containing 22
Symbol: CCDC22
Synonyms: lang: en
text: JM1
GeneType: Name: gene with protein product
Rare disease: Isolated acheiropodia (Orphanet code 931)
Associated genes:
Name: limb development membrane protein 1
Symbol: LMBR1
Synonyms: lang: en
text: ACHP
lang: en
text: FLJ11665
lang: en
text: ZRS
GeneType: Name: gene with protein product
Rare disease: Triple A syndrome (Orphanet code 869)
Associated genes:
Name: trafficking protein particle complex subunit 11
Symbol: TRAPPC11
Synonyms: lang: en
text: FLJ12716
lang: en
text: foie gras homolog (zebrafish)
lang: en
text: foigr
lang: en
text: gry
lang: en
text: gryzun homolog (Drosophila)
GeneType: Name: gene with protein product
Name: aladin WD repeat nucleoporin
Symbol: AAAS
Synonyms: lang: en
text: Allgrove, triple-A
lang: en
text: adracalin
lang: en
text: aladin
GeneType: Name: gene with protein product
Name: GDP-mannose pyrophosphorylase A
Symbol: GMPPA
GeneType: Name: gene with protein product
Rare disease: Insulin-resistance syndrome type A (Orphanet code 2297)
Associated genes:
Name: insulin receptor
Symbol: INSR
Synonyms: lang: en
text: CD220
GeneType: Name: gene with protein product
Rare disease: Abruzzo-Erickson syndrome (Orphanet code 921)
Associated genes:
Name: T-box transcription factor 22
Symbol: TBX22
GeneType: Name: gene with protein product
Rare disease: Oxoglutaric aciduria (Orphanet code 31)
Associated genes:
Name: oxoglutarate dehydrogenase
Symbol: OGDH
Synonyms: lang: en
text: E1k
lang: en
text: KGD1
lang: en
text: OGDC-E1
lang: en
text: OGDH2
GeneType: Name: gene with protein product
Rare disease: Acrodermatitis enteropathica (Orphanet code 37)
Associated genes:
Name: solute carrier family 39 member 4
Symbol: SLC39A4
Synonyms: lang: en
text: AWMS2
lang: en
text: ZIP-4
lang: en
text: ZIP4
lang: en
text: ZRT/IRT-like protein 4
lang: en
text: Zinc transporter ZIP4
lang: en
text: zinc transporter 4
GeneType: Name: gene with protein product
Rare disease: Acrodysostosis (Orphanet code 950)
Associated genes:
Name: phosphodiesterase 4D
Symbol: PDE4D
Synonyms: lang: en
text: cAMP-specific 3',5'-cyclic phosphodiesterase 4D
lang: en
text: phosphodiesterase E3 dunce homolog (Drosophila)
GeneType: Name: gene with protein product
Name: protein kinase cAMP-dependent type I regulatory subunit alpha
Symbol: PRKAR1A
Synonyms: lang: en
text: CNC1
lang: en
text: Carney complex type 1
GeneType: Name: gene with protein product
Rare disease: Hajdu-Cheney syndrome (Orphanet code 955)
Associated genes:
Name: notch receptor 2
Symbol: NOTCH2
GeneType: Name: gene with protein product
Rare disease: Acrofacial dysostosis, Weyers type (Orphanet code 952)
Associated genes:
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: EvC ciliary complex subunit 2
Symbol: EVC2
Synonyms: lang: en
text: LBN
lang: en
text: limbin
GeneType: Name: gene with protein product
Rare disease: 17p11.2 microduplication syndrome (Orphanet code 1713)
Associated genes:
Name: retinoic acid induced 1
Symbol: RAI1
Synonyms: lang: en
text: DKFZP434A139
lang: en
text: KIAA1820
lang: en
text: MGC12824
lang: en
text: SMS
GeneType: Name: gene with protein product
Rare disease: Proximal Xq28 duplication syndrome (Orphanet code 1762)
Associated genes:
Name: methyl-CpG binding protein 2
Symbol: MECP2
GeneType: Name: gene with protein product
Rare disease: TRIM32-related limb-girdle muscular dystrophy R8 (Orphanet code 1878)
Associated genes:
Name: tripartite motif containing 32
Symbol: TRIM32
Synonyms: lang: en
text: BBS11
lang: en
text: HT2A
lang: en
text: TATIP
GeneType: Name: gene with protein product
Rare disease: Amelocerebrohypohidrotic syndrome (Orphanet code 1946)
Associated genes:
Name: solute carrier family 13 member 5
Symbol: SLC13A5
Synonyms: lang: en
text: INDY
lang: en
text: NACT
lang: en
text: Na(+)/citrate cotransporter
lang: en
text: mINDY
lang: en
text: mammalian INDY homolog (Drosophila)
GeneType: Name: gene with protein product
Name: rogdi atypical leucine zipper
Symbol: ROGDI
Synonyms: lang: en
text: FLJ22386
lang: en
text: RAV2
lang: en
text: ROGD1
GeneType: Name: gene with protein product
Rare disease: Familial visceral myopathy (Orphanet code 2604)
Associated genes:
Name: actin gamma 2, smooth muscle
Symbol: ACTG2
Synonyms: lang: en
text: ACTSG
GeneType: Name: gene with protein product
Rare disease: Carnitine palmitoyl transferase 1A deficiency (Orphanet code 156)
Associated genes:
Name: carnitine palmitoyltransferase 1A
Symbol: CPT1A
Synonyms: lang: en
text: CPT1-L
lang: en
text: L-CPT1
GeneType: Name: gene with protein product
Rare disease: Mitochondrial myopathy and sideroblastic anemia (Orphanet code 2598)
Associated genes:
Name: pseudouridine synthase 1
Symbol: PUS1
Synonyms: lang: en
text: MLASA1
lang: en
text: mitochondrial myopathy and sideroblastic anemia 1
lang: en
text: tRNA pseudouridine(38-40) synthase
GeneType: Name: gene with protein product
Name: tyrosyl-tRNA synthetase 2
Symbol: YARS2
Synonyms: lang: en
text: CGI-04
lang: en
text: FLJ13995
lang: en
text: mt-TyrRS
lang: en
text: tyrosine tRNA ligase 2, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Ankyloblepharon filiforme adnatum-cleft palate syndrome (Orphanet code 1072)
Associated genes:
Name: tumor protein p63
Symbol: TP63
Synonyms: lang: en
text: EEC3
lang: en
text: KET
lang: en
text: NBP
lang: en
text: OFC8
lang: en
text: SHFM4
lang: en
text: p40
lang: en
text: p51
lang: en
text: p53CP
lang: en
text: p63
lang: en
text: p73H
lang: en
text: p73L
GeneType: Name: gene with protein product
Rare disease: Vein of Galen aneurysmal malformation (Orphanet code 1053)
Associated genes:
Name: EPH receptor B4
Symbol: EPHB4
Synonyms: lang: en
text: Tyro11
GeneType: Name: gene with protein product
Rare disease: Mosaic variegated aneuploidy syndrome (Orphanet code 1052)
Associated genes:
Name: thyroid hormone receptor interactor 13
Symbol: TRIP13
Synonyms: lang: en
text: 16E1BP
lang: en
text: thyroid receptor interacting protein 13
GeneType: Name: gene with protein product
Name: BUB1 mitotic checkpoint serine/threonine kinase B
Symbol: BUB1B
Synonyms: lang: en
text: BUBR1
lang: en
text: Bub1A
lang: en
text: MAD3L
lang: en
text: SSK1
GeneType: Name: gene with protein product
Name: centrosomal protein 57
Symbol: CEP57
Synonyms: lang: en
text: KIAA0092
lang: en
text: TSP57
lang: en
text: Translokin
GeneType: Name: gene with protein product
Name: BUB1 mitotic checkpoint serine/threonine kinase
Symbol: BUB1
Synonyms: lang: en
text: BUB1A
lang: en
text: hBUB1
GeneType: Name: gene with protein product
Name: BUB3 mitotic checkpoint protein
Symbol: BUB3
Synonyms: lang: en
text: BUB3L
GeneType: Name: gene with protein product
Rare disease: Metaphyseal anadysplasia (Orphanet code 1040)
Associated genes:
Name: matrix metallopeptidase 13
Symbol: MMP13
Synonyms: lang: en
text: CLG3
lang: en
text: collagenase 3
GeneType: Name: gene with protein product
Name: matrix metallopeptidase 13
Symbol: MMP13
Synonyms: lang: en
text: CLG3
lang: en
text: collagenase 3
GeneType: Name: gene with protein product
Name: matrix metallopeptidase 9
Symbol: MMP9
GeneType: Name: gene with protein product
Rare disease: Microphthalmia with limb anomalies (Orphanet code 1106)
Associated genes:
Name: SPARC related modular calcium binding 1
Symbol: SMOC1
GeneType: Name: gene with protein product
Rare disease: Agnathia-holoprosencephaly-situs inversus syndrome (Orphanet code 990)
Associated genes:
Name: orthodenticle homeobox 2
Symbol: OTX2
GeneType: Name: gene with protein product
Name: paired related homeobox 1
Symbol: PRRX1
Synonyms: lang: en
text: PHOX1
GeneType: Name: gene with protein product
Rare disease: Fetal akinesia deformation sequence (Orphanet code 994)
Associated genes:
Name: solute carrier family 18 member A3
Symbol: SLC18A3
Synonyms: lang: en
text: VACHT
GeneType: Name: gene with protein product
Name: myogenic differentiation 1
Symbol: MYOD1
Synonyms: lang: en
text: MYOD
lang: en
text: PUM
lang: en
text: bHLHc1
lang: en
text: myoblast determination protein 1
GeneType: Name: gene with protein product
Name: receptor associated protein of the synapse
Symbol: RAPSN
Synonyms: lang: en
text: CMS1D
lang: en
text: CMS1E
lang: en
text: RNF205
lang: en
text: rapsyn
GeneType: Name: gene with protein product
Name: docking protein 7
Symbol: DOK7
Synonyms: lang: en
text: Dok-7
lang: en
text: FLJ33718
lang: en
text: FLJ39137
GeneType: Name: gene with protein product
Name: muscle associated receptor tyrosine kinase
Symbol: MUSK
GeneType: Name: gene with protein product
Name: nucleoporin 88
Symbol: NUP88
Synonyms: lang: en
text: MGC8530
GeneType: Name: gene with protein product
Name: kinesin family member 21A
Symbol: KIF21A
Synonyms: lang: en
text: FLJ20052
GeneType: Name: gene with protein product
Name: tubulin alpha 1a
Symbol: TUBA1A
Synonyms: lang: en
text: B-ALPHA-1
lang: en
text: FLJ25113
lang: en
text: TUBA3
lang: en
text: Tubulin, alpha, brain-specific
lang: en
text: tubulin, alpha, brain-specific
GeneType: Name: gene with protein product
Rare disease: Aicardi-Goutières syndrome (Orphanet code 51)
Associated genes:
Name: LSM11, U7 small nuclear RNA associated
Symbol: LSM11
Synonyms: lang: en
text: FLJ38273
GeneType: Name: gene with protein product
Name: RNA, U7 small nuclear 1
Symbol: RNU7-1
Synonyms: lang: en
text: RNA, small nuclear U7.1
lang: en
text: U7.1
GeneType: Name: Non-coding RNA
Name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Symbol: SAMHD1
Synonyms: lang: en
text: AGS5
lang: en
text: Aicardi-Goutieres syndrome 5
lang: en
text: HD domain containing 1
lang: en
text: HDDC1
lang: en
text: MOP-5
lang: en
text: Mg11
lang: en
text: SBBI88
lang: en
text: monocyte protein 5
GeneType: Name: gene with protein product
Name: ribonuclease H2 subunit A
Symbol: RNASEH2A
Synonyms: lang: en
text: AGS4
lang: en
text: RNASEHI
lang: en
text: RNHIA
lang: en
text: RNHL
GeneType: Name: gene with protein product
Name: ribonuclease H2 subunit B
Symbol: RNASEH2B
Synonyms: lang: en
text: FLJ11712
GeneType: Name: gene with protein product
Name: ribonuclease H2 subunit C
Symbol: RNASEH2C
Synonyms: lang: en
text: AGS3
lang: en
text: AYP1
lang: en
text: Aicardi-Goutieres syndrome 3
GeneType: Name: gene with protein product
Name: adenosine deaminase RNA specific
Symbol: ADAR
Synonyms: lang: en
text: ADAR1
lang: en
text: DRADA
lang: en
text: Double-stranded RNA-specific adenosine deaminase
GeneType: Name: gene with protein product
Name: three prime repair exonuclease 1
Symbol: TREX1
Synonyms: lang: en
text: DRN3
GeneType: Name: gene with protein product
Name: interferon induced with helicase C domain 1
Symbol: IFIH1
Synonyms: lang: en
text: Hlcd
lang: en
text: IDDM19
lang: en
text: MDA-5
lang: en
text: MDA5
lang: en
text: helicard
lang: en
text: melanoma differentiation-associated gene 5
GeneType: Name: gene with protein product
Rare disease: ADULT syndrome (Orphanet code 978)
Associated genes:
Name: tumor protein p63
Symbol: TP63
Synonyms: lang: en
text: EEC3
lang: en
text: KET
lang: en
text: NBP
lang: en
text: OFC8
lang: en
text: SHFM4
lang: en
text: p40
lang: en
text: p51
lang: en
text: p53CP
lang: en
text: p63
lang: en
text: p73H
lang: en
text: p73L
GeneType: Name: gene with protein product
Rare disease: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (Orphanet code 988)
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: limb development membrane protein 1
Symbol: LMBR1
Synonyms: lang: en
text: ACHP
lang: en
text: FLJ11665
lang: en
text: ZRS
GeneType: Name: gene with protein product
Rare disease: Testicular regression syndrome (Orphanet code 983)
Associated genes:
Name: DEAH-box helicase 37
Symbol: DHX37
Synonyms: lang: en
text: Dhr1
lang: en
text: KIAA1517
lang: en
text: MGC2695
lang: en
text: MGC4322
GeneType: Name: gene with protein product