TaoMedAI/RareMedData huggingface dataset:
Rare disease: Infantile spasms syndrome (Orphanet code 3451)
Associated genes:
Name: neurotrophic receptor tyrosine kinase 2
Symbol: NTRK2
Synonyms: lang: en
text: BDNF/NT-3 growth factors receptor
lang: en
text: TRKB
GeneType: Name: gene with protein product
Name: WD repeat domain 45
Symbol: WDR45
Synonyms: lang: en
text: JM5
lang: en
text: NBIA5
lang: en
text: WIPI4
lang: en
text: neurodegeneration with brain iron accumulation 5
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 2
Symbol: SCN2A
Synonyms: lang: en
text: HBSCI
lang: en
text: HBSCII
lang: en
text: Nav1.2
GeneType: Name: gene with protein product
Name: cyclin dependent kinase like 5
Symbol: CDKL5
Synonyms: lang: en
text: CFAP247
lang: en
text: EIEE2
GeneType: Name: gene with protein product
Name: aristaless related homeobox
Symbol: ARX
Synonyms: lang: en
text: CT121
lang: en
text: EIEE1
lang: en
text: ISSX
lang: en
text: cancer/testis antigen 121
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class A
Symbol: PIGA
Synonyms: lang: en
text: GPI3
lang: en
text: GPI3 (SPT14) homolog (S. cerevisiae)
lang: en
text: PIG-A
lang: en
text: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
lang: en
text: paroxysmal nocturnal hemoglobinuria
GeneType: Name: gene with protein product
Name: spectrin alpha, non-erythrocytic 1
Symbol: SPTAN1
Synonyms: lang: en
text: alpha-fodrin
GeneType: Name: gene with protein product
Name: phospholipase C beta 1
Symbol: PLCB1
Synonyms: lang: en
text: KIAA0581
lang: en
text: PLC-I
lang: en
text: PLC154
lang: en
text: phosphoinositide phospholipase C
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor NMDA type subunit 2B
Symbol: GRIN2B
Synonyms: lang: en
text: GluN2B
lang: en
text: NR2B
GeneType: Name: gene with protein product
Name: ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Symbol: ST3GAL3
Synonyms: lang: en
text: N-acetyllactosaminide alpha-2,3-sialyltransferase
lang: en
text: ST3Gal III
GeneType: Name: gene with protein product
Name: salt inducible kinase 1
Symbol: SIK1
Synonyms: lang: en
text: msk
lang: en
text: myocardial SNF1-like kinase
GeneType: Name: gene with protein product
Name: phosphatase and actin regulator 1
Symbol: PHACTR1
Synonyms: lang: en
text: KIAA1733
lang: en
text: dJ257A7.2
GeneType: Name: gene with protein product
Name: GTP binding elongation factor GUF1
Symbol: GUF1
Synonyms: lang: en
text: FLJ13220
GeneType: Name: gene with protein product
Name: canopy FGF signaling regulator 3
Symbol: CNPY3
Synonyms: lang: en
text: CAG4A
GeneType: Name: gene with protein product
Rare disease: Calpain-3-related limb-girdle muscular dystrophy R1 (Orphanet code 267)
Associated genes:
Name: calpain 3
Symbol: CAPN3
Synonyms: lang: en
text: CANP3
lang: en
text: nCL-1
lang: en
text: p94
GeneType: Name: gene with protein product
Rare disease: Primary biliary cholangitis (Orphanet code 186)
Associated genes:
Name: interleukin 12 receptor subunit beta 1
Symbol: IL12RB1
Synonyms: lang: en
text: CD212
GeneType: Name: gene with protein product
Name: Spi-B transcription factor
Symbol: SPIB
Synonyms: lang: en
text: SPI-B
GeneType: Name: gene with protein product
Name: interleukin 12A
Symbol: IL12A
Synonyms: lang: en
text: CLMF
lang: en
text: IL-12, subunit p35
lang: en
text: IL-12A
lang: en
text: IL35 subunit
lang: en
text: NF cell stimulatory factor chain 1
lang: en
text: NFSK
lang: en
text: cytotoxic lymphocyte maturation factor 1, p35
lang: en
text: interleukin 12, p35
lang: en
text: interleukin-12 alpha chain
lang: en
text: natural killer cell stimulatory factor 1, 35 kD subunit
lang: en
text: p35
GeneType: Name: gene with protein product
Name: interferon regulatory factor 5
Symbol: IRF5
Synonyms: lang: en
text: IRF-5
GeneType: Name: gene with protein product
Name: transportin 3
Symbol: TNPO3
Synonyms: lang: en
text: IPO12
lang: en
text: MTR10A
lang: en
text: TRN-SR
lang: en
text: TRN-SR2
lang: en
text: importin 12
GeneType: Name: gene with protein product
Name: membrane metalloendopeptidase like 1
Symbol: MMEL1
Synonyms: lang: en
text: NEPII
lang: en
text: NL1
lang: en
text: NL2
lang: en
text: SEP
lang: en
text: neprilysin 2
lang: en
text: neprilysin-II
GeneType: Name: gene with protein product
Name: POU class 2 homeobox associating factor 1
Symbol: POU2AF1
Synonyms: lang: en
text: BOB1
lang: en
text: OBF1
lang: en
text: OCA-B
lang: en
text: OCT-binding factor 1
GeneType: Name: gene with protein product
Name: TNF superfamily member 15
Symbol: TNFSF15
Synonyms: lang: en
text: MGC129934
lang: en
text: MGC129935
lang: en
text: TL1
lang: en
text: TL1A
lang: en
text: TNF ligand-related molecule 1
lang: en
text: TNF superfamily ligand TL1A
lang: en
text: VEGI
lang: en
text: VEGI192A
lang: en
text: Vascular endothelial cell growth inhibitor
lang: en
text: Vascular endothelial growth inhibitor-192A
lang: en
text: vascular endothelial cell growth inhibitor
lang: en
text: vascular endothelial growth inhibitor-192A
GeneType: Name: gene with protein product
Rare disease: Giant cell arteritis (Orphanet code 397)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 22
Symbol: PTPN22
Synonyms: lang: en
text: Lyp
lang: en
text: Lyp1
lang: en
text: Lyp2
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class I, B
Symbol: HLA-B
GeneType: Name: gene with protein product
Name: prolyl 4-hydroxylase subunit alpha 2
Symbol: P4HA2
Synonyms: lang: en
text: 4-PH alpha 2
lang: en
text: C-P4Halpha(II)
lang: en
text: collagen prolyl 4-hydroxylase alpha(II)
lang: en
text: lncRNA promotes epithelial-mesenchymal transition
lang: en
text: lncRNA-PE
GeneType: Name: gene with protein product
Rare disease: Multiple symmetric lipomatosis (Orphanet code 2398)
Associated genes:
Name: mitofusin 2
Symbol: MFN2
Synonyms: lang: en
text: CMT2A2
lang: en
text: CPRP1
lang: en
text: KIAA0214
lang: en
text: MARF
GeneType: Name: gene with protein product
Rare disease: Budd-Chiari syndrome (Orphanet code 131)
Associated genes:
Name: coagulation factor V
Symbol: F5
GeneType: Name: gene with protein product
Name: Janus kinase 2
Symbol: JAK2
Synonyms: lang: en
text: JTK10
GeneType: Name: gene with protein product
Name: calreticulin
Symbol: CALR
Synonyms: lang: en
text: CALR1
lang: en
text: CRT
lang: en
text: FLJ26680
lang: en
text: RO
lang: en
text: SSA
lang: en
text: Sicca syndrome antigen A (autoantigen Ro; calreticulin)
lang: en
text: autoantigen Ro
lang: en
text: cC1qR
lang: en
text: calregulin
GeneType: Name: gene with protein product
Rare disease: Nephroblastoma (Orphanet code 654)
Associated genes:
Name: BRCA2 DNA repair associated
Symbol: BRCA2
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 2
lang: en
text: BRCC2
lang: en
text: FAD
lang: en
text: FAD1
lang: en
text: XRCC11
GeneType: Name: gene with protein product
Name: glypican 3
Symbol: GPC3
Synonyms: lang: en
text: DGSX
lang: en
text: OCI-5
lang: en
text: SGB
lang: en
text: SGBS
lang: en
text: SGBS1
lang: en
text: glypican proteoglycan 3
GeneType: Name: gene with protein product
Name: tripartite motif containing 28
Symbol: TRIM28
Synonyms: lang: en
text: KAP-1
lang: en
text: KAP1
lang: en
text: KRAB-associated protein 1
lang: en
text: PPP1R157
lang: en
text: RING finger protein 96
lang: en
text: RNF96
lang: en
text: TF1B
lang: en
text: TIF1-beta
lang: en
text: TIF1B
lang: en
text: TIF1beta
lang: en
text: Transcription intermediary factor 1-beta
lang: en
text: protein phosphatase 1, regulatory subunit 157
GeneType: Name: gene with protein product
Name: tripartite motif containing 28
Symbol: TRIM28
Synonyms: lang: en
text: KAP-1
lang: en
text: KAP1
lang: en
text: KRAB-associated protein 1
lang: en
text: PPP1R157
lang: en
text: RING finger protein 96
lang: en
text: RNF96
lang: en
text: TF1B
lang: en
text: TIF1-beta
lang: en
text: TIF1B
lang: en
text: TIF1beta
lang: en
text: Transcription intermediary factor 1-beta
lang: en
text: protein phosphatase 1, regulatory subunit 157
GeneType: Name: gene with protein product
Name: RE1 silencing transcription factor
Symbol: REST
Synonyms: lang: en
text: NRSF
lang: en
text: XBR
lang: en
text: neuron-restrictive silencer factor
GeneType: Name: gene with protein product
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: POU class 6 homeobox 2
Symbol: POU6F2
Synonyms: lang: en
text: RPF-1
lang: en
text: Retina-derived POU-domain factor-1
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: 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: H19 imprinted maternally expressed transcript
Symbol: H19
Synonyms: lang: en
text: ASM
lang: en
text: ASM1
lang: en
text: D11S813E
lang: en
text: LINC00008
lang: en
text: MIR675 host gene
lang: en
text: MIR675HG
lang: en
text: NCRNA00008
lang: en
text: adult skeletal muscle
lang: en
text: long intergenic non-protein coding RNA 8
lang: en
text: non-protein coding RNA 8
GeneType: Name: Non-coding RNA
Name: DIS3 like 3'-5' exoribonuclease 2
Symbol: DIS3L2
Synonyms: lang: en
text: FLJ36974
lang: en
text: MGC42174
GeneType: Name: gene with protein product
Rare disease: Myeloperoxidase deficiency (Orphanet code 2587)
Associated genes:
Name: myeloperoxidase
Symbol: MPO
GeneType: Name: gene with protein product
Rare disease: Tuberculosis (Orphanet code 3389)
Associated genes:
Name: solute carrier family 11 member 1
Symbol: SLC11A1
GeneType: Name: gene with protein product
Rare disease: Pityriasis rubra pilaris (Orphanet code 2897)
Associated genes:
Name: caspase recruitment domain family member 14
Symbol: CARD14
Synonyms: lang: en
text: BIMP2
lang: en
text: CARMA2
GeneType: Name: gene with protein product
Rare disease: Transient familial neonatal hyperbilirubinemia (Orphanet code 2312)
Associated genes:
Name: UDP glucuronosyltransferase family 1 member A1
Symbol: UGT1A1
Synonyms: lang: en
text: UGT1A
GeneType: Name: Disorder-associated locus
Rare disease: Infantile LAD-like disease due to RAC2 deficiency (Orphanet code 183707)
Associated genes:
Name: Rac family small GTPase 2
Symbol: RAC2
Synonyms: lang: en
text: EN-7
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency (Orphanet code 2314)
Associated genes:
Name: signal transducer and activator of transcription 3
Symbol: STAT3
Synonyms: lang: en
text: APRF
GeneType: Name: gene with protein product
Rare disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency (Orphanet code 183675)
Associated genes:
Name: immunoglobulin heavy constant gamma 2 (G2m marker)
Symbol: IGHG2
GeneType: Name: gene with protein product
Name: immunoglobulin kappa constant
Symbol: IGKC
Synonyms: lang: en
text: HCAK1
GeneType: Name: gene with protein product
Rare disease: Hydranencephaly (Orphanet code 2177)
Associated genes:
Name: nudE neurodevelopment protein 1
Symbol: NDE1
Synonyms: lang: en
text: FLJ20101
lang: en
text: NDE
lang: en
text: NUDE
lang: en
text: nudE
GeneType: Name: gene with protein product
Rare disease: Bacterial susceptibility due to TLR signaling pathway deficiency (Orphanet code 183713)
Associated genes:
Name: MYD88 innate immune signal transduction adaptor
Symbol: MYD88
Synonyms: lang: en
text: TLR adaptor MYD88
GeneType: Name: gene with protein product
Rare disease: Legg-Calvé-Perthes disease (Orphanet code 2380)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Waardenburg-Shah syndrome (Orphanet code 897)
Associated genes:
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: endothelin 3
Symbol: EDN3
Synonyms: lang: en
text: ET3
GeneType: Name: gene with protein product
Name: endothelin receptor type B
Symbol: EDNRB
Synonyms: lang: en
text: ETB
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
Rare disease: Seckel syndrome (Orphanet code 808)
Associated genes:
Name: DNA replication helicase/nuclease 2
Symbol: DNA2
Synonyms: lang: en
text: KIAA0083
GeneType: Name: gene with protein product
Name: nucleoporin 85
Symbol: NUP85
Synonyms: lang: en
text: FLJ12549
lang: en
text: NUP75
GeneType: Name: gene with protein product
Name: ATR serine/threonine kinase
Symbol: ATR
Synonyms: lang: en
text: FRP1
lang: en
text: MEC1
lang: en
text: MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)
lang: en
text: SCKL
lang: en
text: SCKL1
GeneType: Name: gene with protein product
Name: centromere protein J
Symbol: CENPJ
Synonyms: lang: en
text: BM032
lang: en
text: CPAP
lang: en
text: LAG-3-associated protein
lang: en
text: LAP
lang: en
text: LIP1
lang: en
text: SASS4
lang: en
text: SCKL4
lang: en
text: Sas-4
lang: en
text: Seckel syndrome 4
lang: en
text: Spindle assembly abnormal 4
lang: en
text: centrosomal P4.1-associated protein
GeneType: Name: gene with protein product
Name: pericentrin
Symbol: PCNT
Synonyms: lang: en
text: KEN
lang: en
text: KIAA0402
lang: en
text: PCN
lang: en
text: PCNTB
lang: en
text: SCKL4
lang: en
text: Seckel syndrome 4
lang: en
text: kendrin
GeneType: Name: gene with protein product
Name: centrosomal protein 152
Symbol: CEP152
Synonyms: lang: en
text: KIAA0912
lang: en
text: MCPH9
lang: en
text: SCKL5
lang: en
text: asterless
GeneType: Name: gene with protein product
Name: RB binding protein 8, endonuclease
Symbol: RBBP8
Synonyms: lang: en
text: COM1
lang: en
text: CTBP-interacting protein
lang: en
text: CtIP
lang: en
text: RIM
GeneType: Name: gene with protein product
Name: ATR interacting protein
Symbol: ATRIP
Synonyms: lang: en
text: FLJ12343
lang: en
text: MGC20625
lang: en
text: MGC21482
lang: en
text: MGC26740
GeneType: Name: gene with protein product
Name: TRAF interacting protein
Symbol: TRAIP
Synonyms: lang: en
text: RNF206
lang: en
text: TRIP
lang: en
text: ring finger protein 206
GeneType: Name: gene with protein product
Name: polo like kinase 4
Symbol: PLK4
Synonyms: lang: en
text: Sak
GeneType: Name: gene with protein product
Name: centromere protein E
Symbol: CENPE
Synonyms: lang: en
text: KIF10
lang: en
text: PPP1R61
lang: en
text: protein phosphatase 1, regulatory subunit 61
GeneType: Name: gene with protein product
Rare disease: Caudal regression syndrome (Orphanet code 3027)
Associated genes:
Name: VANGL planar cell polarity protein 1
Symbol: VANGL1
Synonyms: lang: en
text: STB2
GeneType: Name: gene with protein product
Name: fuzzy planar cell polarity protein
Symbol: FUZ
Synonyms: lang: en
text: CPLANE3
lang: en
text: FLJ22688
lang: en
text: Fy
lang: en
text: ciliogenesis and planar polarity effector complex subunit 3
GeneType: Name: gene with protein product
Rare disease: Hereditary chronic pancreatitis (Orphanet code 676)
Associated genes:
Name: calcium sensing receptor
Symbol: CASR
Synonyms: lang: en
text: FHH
lang: en
text: GPRC2A
lang: en
text: NSHPT
lang: en
text: severe neonatal hyperparathyroidism
GeneType: Name: gene with protein product
Name: serine protease 1
Symbol: PRSS1
GeneType: Name: gene with protein product
Name: CF transmembrane conductance regulator
Symbol: CFTR
Synonyms: lang: en
text: ABC35
lang: en
text: ATP-binding cassette sub-family C, member 7
lang: en
text: CFTR/MRP
lang: en
text: MRP7
lang: en
text: TNR-CFTR
lang: en
text: dJ760C5.1
GeneType: Name: gene with protein product
Name: serine peptidase inhibitor Kazal type 1
Symbol: SPINK1
Synonyms: lang: en
text: PCTT
lang: en
text: PSTI
lang: en
text: Spink3
lang: en
text: TATI
GeneType: Name: gene with protein product
Name: serine protease 2
Symbol: PRSS2
Synonyms: lang: en
text: TRY2
lang: en
text: trypsin 2
GeneType: Name: gene with protein product
Name: chymotrypsin C
Symbol: CTRC
Synonyms: lang: en
text: CLCR
lang: en
text: ELA4
lang: en
text: caldecrin
lang: en
text: chymotrypsinogen C
lang: en
text: elastase 4
GeneType: Name: gene with protein product
Name: carboxypeptidase A1
Symbol: CPA1
Synonyms: lang: en
text: pancreatic carboxypeptidase A
GeneType: Name: gene with protein product
Rare disease: Giant axonal neuropathy (Orphanet code 643)
Associated genes:
Name: gigaxonin
Symbol: GAN
Synonyms: lang: en
text: GAN1
lang: en
text: GIG
lang: en
text: KLHL16
lang: en
text: kelch-like family member 16
GeneType: Name: gene with protein product
Rare disease: Netherton syndrome (Orphanet code 634)
Associated genes:
Name: serine peptidase inhibitor Kazal type 5
Symbol: SPINK5
Synonyms: lang: en
text: DKFZp686K19184
lang: en
text: FLJ21544
lang: en
text: FLJ97536
lang: en
text: FLJ97596
lang: en
text: FLJ99794
lang: en
text: LEKTI
lang: en
text: LETKI
lang: en
text: NETS
lang: en
text: NS
lang: en
text: VAKTI
lang: en
text: lymphoepithelial Kazal-type-related inhibitor
GeneType: Name: gene with protein product
Rare disease: Campomelic dysplasia (Orphanet code 140)
Associated genes:
Name: SRY-box transcription factor 9
Symbol: SOX9
Synonyms: lang: en
text: SRA1
GeneType: Name: gene with protein product
Rare disease: Young-onset Parkinson disease (Orphanet code 2828)
Associated genes:
Name: synaptojanin 1
Symbol: SYNJ1
Synonyms: lang: en
text: INPP5G
lang: en
text: PARK20
lang: en
text: inositol polyphosphate-5-phosphatase G
lang: en
text: phosphoinositide 5-phosphatase
lang: en
text: synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1
GeneType: Name: gene with protein product
Name: synuclein alpha
Symbol: SNCA
Synonyms: lang: en
text: NACP
lang: en
text: PD1
lang: en
text: a-synuclein
lang: en
text: alpha-synuclein
lang: en
text: non A4 component of amyloid precursor
GeneType: Name: gene with protein product
Name: PTEN induced kinase 1
Symbol: PINK1
Synonyms: lang: en
text: BRPK
GeneType: Name: gene with protein product
Name: ubiquitin C-terminal hydrolase L1
Symbol: UCHL1
Synonyms: lang: en
text: PGP9.5
lang: en
text: UCHL-1
lang: en
text: Uch-L1
lang: en
text: ubiquitin thiolesterase
GeneType: Name: gene with protein product
Name: HtrA serine peptidase 2
Symbol: HTRA2
Synonyms: lang: en
text: OMI
lang: en
text: PARK13
GeneType: Name: gene with protein product
Name: podocalyxin like
Symbol: PODXL
Synonyms: lang: en
text: Gp200
lang: en
text: PC
lang: en
text: PCLP
lang: en
text: PDX
lang: en
text: PODXL1
lang: en
text: gp135
GeneType: Name: gene with protein product
Name: leucine rich repeat kinase 2
Symbol: LRRK2
Synonyms: lang: en
text: DKFZp434H2111
lang: en
text: FLJ45829
lang: en
text: RIPK7
lang: en
text: ROCO2
lang: en
text: dardarin
GeneType: Name: gene with protein product
Name: parkin RBR E3 ubiquitin protein ligase
Symbol: PRKN
Synonyms: lang: en
text: AR-JP
lang: en
text: E3 ubiquitin ligase
lang: en
text: PARK2
lang: en
text: PDJ
lang: en
text: parkin
GeneType: Name: gene with protein product
Name: Parkinsonism associated deglycase
Symbol: PARK7
Synonyms: lang: en
text: DJ-1
lang: en
text: DJ1
lang: en
text: GATD2
GeneType: Name: gene with protein product
Name: vacuolar protein sorting 13 homolog C
Symbol: VPS13C
Synonyms: lang: en
text: BLTP5C
lang: en
text: FLJ10381
lang: en
text: FLJ20136
lang: en
text: KIAA1421
lang: en
text: PARK23
lang: en
text: bridge-like lipid transfer protein family member 5C
GeneType: Name: gene with protein product
Name: DnaJ heat shock protein family (Hsp40) member C6
Symbol: DNAJC6
Synonyms: lang: en
text: KIAA0473
lang: en
text: PARK19
lang: en
text: auxilin
GeneType: Name: gene with protein product
Rare disease: Hereditary sensory and autonomic neuropathy type 4 (Orphanet code 642)
Associated genes:
Name: neurotrophic receptor tyrosine kinase 1
Symbol: NTRK1
Synonyms: lang: en
text: MTC
lang: en
text: TRK
lang: en
text: TRKA
lang: en
text: high affinity nerve growth factor receptor
lang: en
text: tropomyosin receptor kinase A
GeneType: Name: gene with protein product
Rare disease: Nance-Horan syndrome (Orphanet code 627)
Associated genes:
Name: NHS actin remodeling regulator
Symbol: NHS
GeneType: Name: gene with protein product
Rare disease: Neurofibromatosis-Noonan syndrome (Orphanet code 638)
Associated genes:
Name: mitogen-activated protein kinase kinase 2
Symbol: MAP2K2
Synonyms: lang: en
text: MAP kinase kinase 2
lang: en
text: MEK2
lang: en
text: MKK2
GeneType: Name: gene with protein product
Name: neurofibromin 1
Symbol: NF1
Synonyms: lang: en
text: Watson disease
lang: en
text: neurofibromatosis
lang: en
text: von Recklinghausen disease
GeneType: Name: gene with protein product
Rare disease: Congenital factor V deficiency (Orphanet code 326)
Associated genes:
Name: coagulation factor V
Symbol: F5
GeneType: Name: gene with protein product
Rare disease: Liddle syndrome (Orphanet code 526)
Associated genes:
Name: sodium channel epithelial 1 subunit beta
Symbol: SCNN1B
Synonyms: lang: en
text: ENaCbeta
lang: en
text: Liddle syndrome
lang: en
text: amiloride-sensitive sodium channel subunit beta
GeneType: Name: gene with protein product
Name: sodium channel epithelial 1 subunit gamma
Symbol: SCNN1G
Synonyms: lang: en
text: ENaCgamma
lang: en
text: SCNEG
lang: en
text: amiloride-sensitive sodium channel subunit gamma
GeneType: Name: gene with protein product
Name: sodium channel epithelial 1 subunit alpha
Symbol: SCNN1A
Synonyms: lang: en
text: ENaCalpha
lang: en
text: amiloride-sensitive sodium channel subunit alpha
GeneType: Name: gene with protein product