TaoMedAI/RareMedData huggingface dataset:
Rare disease: Acute myeloid leukemia with minimal differentiation (Orphanet code 98832)
Associated genes:
Name: fms related receptor tyrosine kinase 3
Symbol: FLT3
Synonyms: lang: en
text: CD135
lang: en
text: FLK2
lang: en
text: STK1
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (Orphanet code 98829)
Associated genes:
Name: fms related receptor tyrosine kinase 3
Symbol: FLT3
Synonyms: lang: en
text: CD135
lang: en
text: FLK2
lang: en
text: STK1
GeneType: Name: gene with protein product
Name: myosin heavy chain 11
Symbol: MYH11
Synonyms: lang: en
text: SMHC
lang: en
text: SMMHC
lang: en
text: SMMS-1
GeneType: Name: gene with protein product
Name: core-binding factor subunit beta
Symbol: CBFB
Synonyms: lang: en
text: PEBP2B
GeneType: Name: gene with protein product
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Rare disease: Unclassified myelodysplastic syndrome (Orphanet code 98827)
Associated genes:
Name: GATA binding protein 2
Symbol: GATA2
Synonyms: lang: en
text: NFE1B
GeneType: Name: gene with protein product
Rare disease: Myelodysplastic neoplasm with low blasts (Orphanet code 98826)
Associated genes:
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Rare disease: Chronic myelomonocytic leukemia (Orphanet code 98823)
Associated genes:
Name: ETS variant transcription factor 6
Symbol: ETV6
Synonyms: lang: en
text: TEL
lang: en
text: TEL oncogene
GeneType: Name: gene with protein product
Name: ASXL transcriptional regulator 1
Symbol: ASXL1
Synonyms: lang: en
text: KIAA0978
GeneType: Name: gene with protein product
Name: serine and arginine rich splicing factor 2
Symbol: SRSF2
Synonyms: lang: en
text: PR264
lang: en
text: SC-35
lang: en
text: SC35
lang: en
text: SFRS2A
lang: en
text: SR splicing factor 2
GeneType: Name: gene with protein product
Rare disease: Atypical chronic myeloid leukemia (Orphanet code 98824)
Associated genes:
Name: colony stimulating factor 3 receptor
Symbol: CSF3R
Synonyms: lang: en
text: G-CSF-R
lang: en
text: GCSFR
lang: en
text: granulocyte colony-stimulating factor receptor
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Emery-Dreifuss muscular dystrophy (Orphanet code 98853)
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
Name: spectrin repeat containing nuclear envelope protein 1
Symbol: SYNE1
Synonyms: lang: en
text: 8B
lang: en
text: ARCA1
lang: en
text: CPG2
lang: en
text: Enaptin
lang: en
text: KIAA0796
lang: en
text: MYNE1
lang: en
text: Nesp1
lang: en
text: Nesprin-1
lang: en
text: SCAR8
lang: en
text: SYNE-1B
lang: en
text: dJ45H2.2
lang: en
text: enaptin
lang: en
text: myocyte nuclear envelope protein 1
lang: en
text: nuclear envelope spectrin repeat-1
GeneType: Name: gene with protein product
Name: transmembrane protein 43
Symbol: TMEM43
Synonyms: lang: en
text: DKFZp586G1919
lang: en
text: LUMA
lang: en
text: MGC3222
GeneType: Name: gene with protein product
Name: spectrin repeat containing nuclear envelope protein 2
Symbol: SYNE2
Synonyms: lang: en
text: DKFZP434H2235
lang: en
text: KIAA1011
lang: en
text: NUA
lang: en
text: NUANCE
lang: en
text: Nesp2
lang: en
text: Nesprin-2
lang: en
text: SYNE-2
lang: en
text: nuclear envelope spectrin repeat-2
lang: en
text: nucleus and actin connecting element
GeneType: Name: gene with protein product
Rare disease: Aggressive systemic mastocytosis (Orphanet code 98850)
Associated genes:
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Name: serine and arginine rich splicing factor 2
Symbol: SRSF2
Synonyms: lang: en
text: PR264
lang: en
text: SC-35
lang: en
text: SC35
lang: en
text: SFRS2A
lang: en
text: SR splicing factor 2
GeneType: Name: gene with protein product
Name: ASXL transcriptional regulator 1
Symbol: ASXL1
Synonyms: lang: en
text: KIAA0978
GeneType: Name: gene with protein product
Name: RUNX family transcription factor 1
Symbol: RUNX1
Synonyms: lang: en
text: AMLCR1
lang: en
text: PEBP2A2
lang: en
text: aml1 oncogene
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
Rare disease: Systemic mastocytosis with associated hematologic neoplasm (Orphanet code 98849)
Associated genes:
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Name: serine and arginine rich splicing factor 2
Symbol: SRSF2
Synonyms: lang: en
text: PR264
lang: en
text: SC-35
lang: en
text: SC35
lang: en
text: SFRS2A
lang: en
text: SR splicing factor 2
GeneType: Name: gene with protein product
Name: ASXL transcriptional regulator 1
Symbol: ASXL1
Synonyms: lang: en
text: KIAA0978
GeneType: Name: gene with protein product
Rare disease: Classic Hodgkin lymphoma, nodular sclerosis type (Orphanet code 98843)
Associated genes:
Name: kelch domain containing 8B
Symbol: KLHDC8B
Synonyms: lang: en
text: MGC35097
GeneType: Name: gene with protein product
Rare disease: Intravascular large B-cell lymphoma (Orphanet code 98839)
Associated genes:
Name: BCL6 transcription repressor
Symbol: BCL6
Synonyms: lang: en
text: BCL5
lang: en
text: BCL6A
lang: en
text: LAZ3
lang: en
text: ZBTB27
GeneType: Name: gene with protein product
Name: BCL2 apoptosis regulator
Symbol: BCL2
Synonyms: lang: en
text: Bcl-2
lang: en
text: PPP1R50
lang: en
text: protein phosphatase 1, regulatory subunit 50
GeneType: Name: gene with protein product
Rare disease: Lymphomatoid papulosis (Orphanet code 98842)
Associated genes:
Name: tyrosine kinase 2
Symbol: TYK2
Synonyms: lang: en
text: JTK1
GeneType: Name: gene with protein product
Name: nucleophosmin 1
Symbol: NPM1
Synonyms: lang: en
text: B23
lang: en
text: NPM
lang: en
text: Nucleophosmin/nucleoplasmin family, member 1
lang: en
text: Numatrin
lang: en
text: nucleolar phosphoprotein B23
lang: en
text: nucleophosmin/nucleoplasmin family, member 1
lang: en
text: numatrin
GeneType: Name: gene with protein product
Rare disease: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (Orphanet code 589608)
Associated genes:
Name: ras homolog family member A
Symbol: RHOA
Synonyms: lang: en
text: RHOH12
lang: en
text: Rho12
lang: en
text: RhoA
GeneType: Name: gene with protein product
Rare disease: Mixed phenotype acute leukemia with t(v;11q23.3) (Orphanet code 589595)
Associated genes:
Name: fms related receptor tyrosine kinase 3
Symbol: FLT3
Synonyms: lang: en
text: CD135
lang: en
text: FLK2
lang: en
text: STK1
GeneType: Name: gene with protein product
Name: lysine methyltransferase 2A
Symbol: KMT2A
Synonyms: lang: en
text: ALL-1
lang: en
text: ALL1
lang: en
text: CXXC7
lang: en
text: HRX
lang: en
text: HTRX
lang: en
text: HTRX1
lang: en
text: Histone-lysine N-methyltransferase 2A
lang: en
text: MLL1
lang: en
text: MLL1A
lang: en
text: TRX1
GeneType: Name: gene with protein product
Name: ALF transcription elongation factor 1
Symbol: AFF1
Synonyms: lang: en
text: AF-4
lang: en
text: AF4
lang: en
text: ALL1-fused gene from chromosome 4
lang: en
text: FEL
GeneType: Name: gene with protein product
Rare disease: Southeast Asian ovalocytosis (Orphanet code 98868)
Associated genes:
Name: solute carrier family 4 member 1 (Diego blood group)
Symbol: SLC4A1
Synonyms: lang: en
text: Band 3 anion transport protein
lang: en
text: CD233
lang: en
text: EMPB3
lang: en
text: FR
lang: en
text: Froese blood group
lang: en
text: RTA1A
lang: en
text: SW
lang: en
text: Swann blood group
lang: en
text: WR
lang: en
text: Wright blood group
GeneType: Name: gene with protein product
Rare disease: Congenital dyserythropoietic anemia type I (Orphanet code 98869)
Associated genes:
Name: codanin 1
Symbol: CDAN1
Synonyms: lang: en
text: CDA-I
lang: en
text: CDAI
GeneType: Name: gene with protein product
Name: CDAN1 interacting nuclease 1
Symbol: CDIN1
Synonyms: lang: en
text: FLJ22851
lang: en
text: HH114
lang: en
text: MGC11326
GeneType: Name: gene with protein product
Rare disease: Dystonia 28 (Orphanet code 589618)
Associated genes:
Name: lysine methyltransferase 2B
Symbol: KMT2B
Synonyms: lang: en
text: CXXC10
lang: en
text: HRX2
lang: en
text: Histone-lysine N-methyltransferase 2B
lang: en
text: KIAA0304
lang: en
text: MLL1B
lang: en
text: MLL2
lang: en
text: MLL4
lang: en
text: TRX2
lang: en
text: WBP7
lang: en
text: myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4
GeneType: Name: gene with protein product
Rare disease: Congenital dyserythropoietic anemia type III (Orphanet code 98870)
Associated genes:
Name: kinesin family member 23
Symbol: KIF23
Synonyms: lang: en
text: MKLP-1
lang: en
text: MKLP1
GeneType: Name: gene with protein product
Name: Rac GTPase activating protein 1
Symbol: RACGAP1
Synonyms: lang: en
text: CYK4
lang: en
text: MgcRacGAP
GeneType: Name: gene with protein product
Rare disease: Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) (Orphanet code 589534)
Associated genes:
Name: fms related receptor tyrosine kinase 3
Symbol: FLT3
Synonyms: lang: en
text: CD135
lang: en
text: FLK2
lang: en
text: STK1
GeneType: Name: gene with protein product
Name: lysine methyltransferase 2A
Symbol: KMT2A
Synonyms: lang: en
text: ALL-1
lang: en
text: ALL1
lang: en
text: CXXC7
lang: en
text: HRX
lang: en
text: HTRX
lang: en
text: HTRX1
lang: en
text: Histone-lysine N-methyltransferase 2A
lang: en
text: MLL1
lang: en
text: MLL1A
lang: en
text: TRX1
GeneType: Name: gene with protein product
Rare disease: X-linked Emery-Dreifuss muscular dystrophy (Orphanet code 98863)
Associated genes:
Name: emerin
Symbol: EMD
Synonyms: lang: en
text: LEM domain containing 5
lang: en
text: LEMD5
lang: en
text: STA
GeneType: Name: gene with protein product
Name: four and a half LIM domains 1
Symbol: FHL1
Synonyms: lang: en
text: FHL1B
lang: en
text: FLH1A
lang: en
text: Four-and-a-half LIM domains 1
lang: en
text: KYO-T
lang: en
text: LIM protein SLIMMER
lang: en
text: MGC111107
lang: en
text: SLIM1
lang: en
text: XMPMA
lang: en
text: bA535K18.1
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 45 (Orphanet code 589527)
Associated genes:
Name: FAT atypical cadherin 2
Symbol: FAT2
Synonyms: lang: en
text: CDHF8
lang: en
text: CDHR9
lang: en
text: HFAT2
lang: en
text: MEGF1
lang: en
text: cadherin-related family member 9
lang: en
text: multiple EGF like domains 1
GeneType: Name: gene with protein product
Rare disease: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder (Orphanet code 589547)
Associated genes:
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
Rare disease: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome (Orphanet code 589442)
Associated genes:
Name: phosphatidylserine decarboxylase
Symbol: PISD
Synonyms: lang: en
text: PSDC
lang: en
text: dJ858B16.2
GeneType: Name: gene with protein product
Rare disease: Spondylometaphyseal dysplasia-corneal dystrophy syndrome (Orphanet code 589435)
Associated genes:
Name: phospholipase C beta 3
Symbol: PLCB3
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 46 (Orphanet code 589522)
Associated genes:
Name: phospholipase D family member 3
Symbol: PLD3
Synonyms: lang: en
text: HU-K4
GeneType: Name: gene with protein product
Rare disease: PUM1-associated developmental disability-ataxia-seizure syndrome (Orphanet code 589515)
Associated genes:
Name: pumilio RNA binding family member 1
Symbol: PUM1
Synonyms: lang: en
text: KIAA0099
lang: en
text: PUMH1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive Emery-Dreifuss muscular dystrophy (Orphanet code 98855)
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: Charcot-Marie-Tooth disease type 2B1 (Orphanet code 98856)
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: Familial dysfibrinogenemia (Orphanet code 98881)
Associated genes:
Name: fibrinogen alpha chain
Symbol: FGA
GeneType: Name: gene with protein product
Name: fibrinogen beta chain
Symbol: FGB
GeneType: Name: gene with protein product
Name: fibrinogen gamma chain
Symbol: FGG
GeneType: Name: gene with protein product
Rare disease: Familial afibrinogenemia (Orphanet code 98880)
Associated genes:
Name: fibrinogen alpha chain
Symbol: FGA
GeneType: Name: gene with protein product
Name: fibrinogen beta chain
Symbol: FGB
GeneType: Name: gene with protein product
Name: fibrinogen gamma chain
Symbol: FGG
GeneType: Name: gene with protein product
Rare disease: Bleeding diathesis due to glycoprotein VI deficiency (Orphanet code 98885)
Associated genes:
Name: glycoprotein VI platelet
Symbol: GP6
Synonyms: lang: en
text: GPVI
lang: en
text: platelet glycoprotein VI
GeneType: Name: gene with protein product
Rare disease: Congenital dyserythropoietic anemia type II (Orphanet code 98873)
Associated genes:
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
Rare disease: Oculopharyngodistal myopathy (Orphanet code 98897)
Associated genes:
Name: notch 2 N-terminal like C
Symbol: NOTCH2NLC
GeneType: Name: gene with protein product
Name: LDL receptor related protein 12
Symbol: LRP12
Synonyms: lang: en
text: FLJ12929
lang: en
text: ST7
GeneType: Name: gene with protein product
Name: GIPC PDZ domain containing family member 1
Symbol: GIPC1
Synonyms: lang: en
text: GIPC
lang: en
text: GLUT1CBP
lang: en
text: Hs.6454
lang: en
text: NIP
lang: en
text: SEMCAP
lang: en
text: SYNECTIN
lang: en
text: TIP-2
GeneType: Name: gene with protein product
Name: Rab interacting lysosomal protein like 1
Symbol: RILPL1
Synonyms: lang: en
text: FLJ39378
GeneType: Name: gene with protein product
Rare disease: Becker muscular dystrophy (Orphanet code 98895)
Associated genes:
Name: dystrophin
Symbol: DMD
Synonyms: lang: en
text: BMD
lang: en
text: DXS142
lang: en
text: DXS164
lang: en
text: DXS206
lang: en
text: DXS230
lang: en
text: DXS239
lang: en
text: DXS268
lang: en
text: DXS269
lang: en
text: DXS270
lang: en
text: DXS272
lang: en
text: muscular dystrophy, Duchenne and Becker types
GeneType: Name: gene with protein product
Rare disease: Duchenne muscular dystrophy (Orphanet code 98896)
Associated genes:
Name: dystrophin
Symbol: DMD
Synonyms: lang: en
text: BMD
lang: en
text: DXS142
lang: en
text: DXS164
lang: en
text: DXS206
lang: en
text: DXS230
lang: en
text: DXS239
lang: en
text: DXS268
lang: en
text: DXS269
lang: en
text: DXS270
lang: en
text: DXS272
lang: en
text: muscular dystrophy, Duchenne and Becker types
GeneType: Name: gene with protein product
Name: latent transforming growth factor beta binding protein 4
Symbol: LTBP4
Synonyms: lang: en
text: FLJ46318
lang: en
text: FLJ90018
lang: en
text: LTBP-4
lang: en
text: LTBP-4L
GeneType: Name: gene with protein product
Rare disease: Amish nemaline myopathy (Orphanet code 98902)
Associated genes:
Name: troponin T1, slow skeletal type
Symbol: TNNT1
Synonyms: lang: en
text: ANM
lang: en
text: FLJ98147
lang: en
text: MGC104241
lang: en
text: NEM5
lang: en
text: STNT
lang: en
text: TNT
lang: en
text: TNTS
lang: en
text: nemaline myopathy type 5
lang: en
text: slow skeletal muscle troponin T
lang: en
text: troponin T1, skeletal, slow
GeneType: Name: gene with protein product
Rare disease: Bilateral perisylvian polymicrogyria (Orphanet code 98889)
Associated genes:
Name: sushi repeat containing protein X-linked 2
Symbol: SRPX2
Synonyms: lang: en
text: SRPUL
GeneType: Name: gene with protein product
Name: adhesion G protein-coupled receptor G1
Symbol: ADGRG1
Synonyms: lang: en
text: TM7LN4
lang: en
text: TM7XN1
GeneType: Name: gene with protein product
Name: phosphatidylinositol 4-kinase alpha
Symbol: PI4KA
Synonyms: lang: en
text: PI4K-ALPHA
lang: en
text: phosphatidylinositol 4-kinase III alpha
lang: en
text: phosphatidylinositol 4-kinase IIIa
lang: en
text: pi4K230
GeneType: Name: gene with protein product
Rare disease: Early-onset X-linked optic atrophy (Orphanet code 98890)
Associated genes:
Name: optic atrophy 2 (obscure)
Symbol: OPA2
GeneType: Name: Disorder-associated locus
Rare disease: Periventricular nodular heterotopia (Orphanet code 98892)
Associated genes:
Name: ADP ribosylation factor guanine nucleotide exchange factor 2
Symbol: ARFGEF2
Synonyms: lang: en
text: BIG2
lang: en
text: Brefeldin A-inhibited guanine nucleotide-exchange protein 2
GeneType: Name: gene with protein product
Name: filamin A
Symbol: FLNA
Synonyms: lang: en
text: ABP-280
lang: en
text: actin binding protein 280
lang: en
text: alpha filamin
GeneType: Name: gene with protein product
Name: ER membrane associated RNA degradation
Symbol: ERMARD
Synonyms: lang: en
text: FLJ11152
lang: en
text: dJ266L20.3
GeneType: Name: gene with protein product
Name: NEDD4 like E3 ubiquitin protein ligase
Symbol: NEDD4L
Synonyms: lang: en
text: KIAA0439
lang: en
text: NEDD4-2
lang: en
text: RSP5
GeneType: Name: gene with protein product
Name: transmembrane O-mannosyltransferase targeting cadherins 3
Symbol: TMTC3
Synonyms: lang: en
text: FLJ90492
lang: en
text: SMILE
GeneType: Name: gene with protein product
Name: ADP ribosylation factor 1
Symbol: ARF1
GeneType: Name: gene with protein product
Name: microtubule associated protein 1B
Symbol: MAP1B
Synonyms: lang: en
text: MAP5
lang: en
text: PPP1R102
lang: en
text: protein phosphatase 1, regulatory subunit 102
GeneType: Name: gene with protein product
Rare disease: Late-onset distal myopathy, Markesbery-Griggs type (Orphanet code 98912)
Associated genes:
Name: LIM domain binding 3
Symbol: LDB3
Synonyms: lang: en
text: KIAA0613
lang: en
text: PDLIM6
lang: en
text: Z-band alternatively spliced PDZ motif protein
lang: en
text: ZASP
lang: en
text: cypher
lang: en
text: oracle
GeneType: Name: gene with protein product
Rare disease: Distal myotilinopathy (Orphanet code 98911)
Associated genes:
Name: myotilin
Symbol: MYOT
GeneType: Name: gene with protein product
Rare disease: Presynaptic congenital myasthenic syndromes (Orphanet code 98914)
Associated genes:
Name: choline O-acetyltransferase
Symbol: CHAT
GeneType: Name: gene with protein product
Name: agrin
Symbol: AGRN
Synonyms: lang: en
text: AGRIN
GeneType: Name: gene with protein product
Name: solute carrier family 25 member 1
Symbol: SLC25A1
Synonyms: lang: en
text: CIC
lang: en
text: CTP
lang: en
text: Tricarboxylate transport protein, mitochondrial
lang: en
text: citrate isocitrate carrier
lang: en
text: citrate transport protein
GeneType: Name: gene with protein product
Name: synaptosome associated protein 25
Symbol: SNAP25
Synonyms: lang: en
text: RIC-4
lang: en
text: RIC4
lang: en
text: SEC9
lang: en
text: SNAP-25
lang: en
text: bA416N4.2
lang: en
text: dJ1068F16.2
lang: en
text: resistance to inhibitors of cholinesterase 4 homolog
GeneType: Name: gene with protein product
Name: synaptotagmin 2
Symbol: SYT2
GeneType: Name: gene with protein product
Name: myosin IXA
Symbol: MYO9A
Synonyms: lang: en
text: FLJ11061
lang: en
text: FLJ13244
lang: en
text: MGC71859
GeneType: Name: gene with protein product
Name: solute carrier family 5 member 7
Symbol: SLC5A7
Synonyms: lang: en
text: CHT1
lang: en
text: ChT
lang: en
text: High affinity choline transporter 1
lang: en
text: hCHT
GeneType: Name: gene with protein product
Name: vesicle associated membrane protein 1
Symbol: VAMP1
Synonyms: lang: en
text: VAMP-1
GeneType: Name: gene with protein product
Name: solute carrier family 18 member A3
Symbol: SLC18A3
Synonyms: lang: en
text: VACHT
GeneType: Name: gene with protein product
Name: collagen type XIII alpha 1 chain
Symbol: COL13A1
GeneType: Name: gene with protein product
Rare disease: Postsynaptic congenital myasthenic syndromes (Orphanet code 98913)
Associated genes:
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: 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: cholinergic receptor nicotinic alpha 1 subunit
Symbol: CHRNA1
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, alpha 1 (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic alpha 1 subunit
Symbol: CHRNA1
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, alpha 1 (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic beta 1 subunit
Symbol: CHRNB1
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, beta 1 (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic beta 1 subunit
Symbol: CHRNB1
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, beta 1 (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic delta subunit
Symbol: CHRND
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, delta (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic delta subunit
Symbol: CHRND
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, delta (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic epsilon subunit
Symbol: CHRNE
Synonyms: lang: en
text: ACHRE
lang: en
text: acetylcholine receptor, nicotinic, epsilon (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic epsilon subunit
Symbol: CHRNE
Synonyms: lang: en
text: ACHRE
lang: en
text: acetylcholine receptor, nicotinic, epsilon (muscle)
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: LDL receptor related protein 4
Symbol: LRP4
Synonyms: lang: en
text: CLSS
lang: en
text: LRP-4
lang: en
text: MEGF7
lang: en
text: SOST2
lang: en
text: multiple EGF like domains 7
GeneType: Name: gene with protein product
Name: agrin
Symbol: AGRN
Synonyms: lang: en
text: AGRIN
GeneType: Name: gene with protein product
Name: adenylate kinase 9
Symbol: AK9
Synonyms: lang: en
text: FLJ25791
lang: en
text: FLJ42177
lang: en
text: MGC26954
lang: en
text: dJ70A9.1
GeneType: Name: gene with protein product
Name: collagen type XIII alpha 1 chain
Symbol: COL13A1
GeneType: Name: gene with protein product
Rare disease: Acute inflammatory demyelinating polyradiculoneuropathy (Orphanet code 98916)
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