TaoMedAI/RareMedData huggingface dataset:
Rare disease: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (Orphanet code 96334)
Associated genes:
Name: maternally expressed 3
Symbol: MEG3
Synonyms: lang: en
text: GTL2
lang: en
text: LINC00023
lang: en
text: NCRNA00023
lang: en
text: gene trap locus 2
lang: en
text: long intergenic non-protein coding RNA 23
lang: en
text: non-protein coding RNA 23
lang: en
text: onco-lncRNA-83
GeneType: Name: Non-coding RNA
Name: delta like non-canonical Notch ligand 1
Symbol: DLK1
Synonyms: lang: en
text: Delta1
lang: en
text: FA1
lang: en
text: Pref-1
lang: en
text: ZOG
lang: en
text: pG2
GeneType: Name: gene with protein product
Name: retrotransposon Gag like 1
Symbol: RTL1
Synonyms: lang: en
text: HUR1
lang: en
text: MART1
lang: en
text: Mar1
lang: en
text: PEG11
lang: en
text: SIRH2
lang: en
text: Sushi-Ichi retrotransposon homolog 2
lang: en
text: mammalian retrotransposon-derived 1
lang: en
text: paternally expressed 11
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to phosphoglycerate mutase deficiency (Orphanet code 97234)
Associated genes:
Name: phosphoglycerate mutase 2
Symbol: PGAM2
Synonyms: lang: en
text: PGAM-M
GeneType: Name: gene with protein product
Rare disease: Rippling muscle disease (Orphanet code 97238)
Associated genes:
Name: caveolin 3
Symbol: CAV3
Synonyms: lang: en
text: LGMD1C
lang: en
text: LQT9
lang: en
text: M-caveolin
lang: en
text: VIP-21
lang: en
text: VIP21
GeneType: Name: gene with protein product
Rare disease: Reducing body myopathy (Orphanet code 97239)
Associated genes:
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: Zebra body myopathy (Orphanet code 97240)
Associated genes:
Name: actin alpha 1, skeletal muscle
Symbol: ACTA1
Synonyms: lang: en
text: NEM3
lang: en
text: nemaline myopathy type 3
GeneType: Name: gene with protein product
Rare disease: 17q11 microdeletion syndrome (Orphanet code 97685)
Associated genes:
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: Non-syndromic posterior hypospadias (Orphanet code 95706)
Associated genes:
Name: androgen receptor
Symbol: AR
Synonyms: lang: en
text: AIS
lang: en
text: HUMARA
lang: en
text: Kennedy disease
lang: en
text: NR3C4
lang: en
text: SMAX1
lang: en
text: testicular feminization
GeneType: Name: gene with protein product
Name: mastermind like domain containing 1
Symbol: MAMLD1
Synonyms: lang: en
text: CG1
lang: en
text: F18
GeneType: Name: gene with protein product
Rare disease: X-linked adrenal hypoplasia congenita (Orphanet code 95702)
Associated genes:
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
Rare disease: Familial thyroid dyshormonogenesis (Orphanet code 95716)
Associated genes:
Name: solute carrier family 5 member 5
Symbol: SLC5A5
Synonyms: lang: en
text: NIS
lang: en
text: sodium iodide symporter
GeneType: Name: gene with protein product
Name: thyroid peroxidase
Symbol: TPO
Synonyms: lang: en
text: TPX
GeneType: Name: gene with protein product
Name: dual oxidase 2
Symbol: DUOX2
Synonyms: lang: en
text: LNOX2
lang: en
text: NADH/NADPH thyroid oxidase p138-tox
lang: en
text: NADPH oxidase/peroxidase DUOX2
lang: en
text: NADPH thyroid oxidase 2
lang: en
text: P138(TOX)
lang: en
text: P138-TOX
lang: en
text: THOX2
lang: en
text: dual oxidase-like domains 2
lang: en
text: flavoprotein NADPH oxidase
lang: en
text: nicotinamide adenine dinucleotide phosphate oxidase
GeneType: Name: gene with protein product
Name: dual oxidase maturation factor 2
Symbol: DUOXA2
GeneType: Name: gene with protein product
Name: thyroglobulin
Symbol: TG
Synonyms: lang: en
text: AITD3
lang: en
text: TGN
GeneType: Name: gene with protein product
Name: iodotyrosine deiodinase
Symbol: IYD
Synonyms: lang: en
text: DEHAL1
lang: en
text: dJ422F24.1
GeneType: Name: gene with protein product
Rare disease: Athyreosis (Orphanet code 95713)
Associated genes:
Name: forkhead box E1
Symbol: FOXE1
Synonyms: lang: en
text: HFKH4
lang: en
text: TTF-2
lang: en
text: thyroid transcription factor 2
GeneType: Name: gene with protein product
Name: NK2 homeobox 1
Symbol: NKX2-1
Synonyms: lang: en
text: TTF-1
lang: en
text: TTF1
GeneType: Name: gene with protein product
Name: solute carrier family 26 member 4
Symbol: SLC26A4
Synonyms: lang: en
text: PDS
lang: en
text: Pendred syndrome
lang: en
text: pendrin
GeneType: Name: gene with protein product
Name: thyroid stimulating hormone receptor
Symbol: TSHR
Synonyms: lang: en
text: LGR3
GeneType: Name: gene with protein product
Name: NK2 homeobox 5
Symbol: NKX2-5
Synonyms: lang: en
text: CSX1
lang: en
text: NKX2.5
lang: en
text: NKX4-1
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Name: paired box 8
Symbol: PAX8
Synonyms: lang: en
text: PAX-8
GeneType: Name: gene with protein product
Rare disease: Thyroid ectopia (Orphanet code 95712)
Associated genes:
Name: NK2 homeobox 5
Symbol: NKX2-5
Synonyms: lang: en
text: CSX1
lang: en
text: NKX2.5
lang: en
text: NKX4-1
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Name: paired box 8
Symbol: PAX8
Synonyms: lang: en
text: PAX-8
GeneType: Name: gene with protein product
Rare disease: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (Orphanet code 95699)
Associated genes:
Name: cytochrome p450 oxidoreductase
Symbol: POR
Synonyms: lang: en
text: CYPOR
lang: en
text: FLJ26468
lang: en
text: NADPH--hemoprotein reductase
GeneType: Name: gene with protein product
Rare disease: Pituitary stalk interruption syndrome (Orphanet code 95496)
Associated genes:
Name: WD repeat domain 11
Symbol: WDR11
Synonyms: lang: en
text: DR11
lang: en
text: FLJ10506
lang: en
text: HH14
lang: en
text: KIAA1351
lang: en
text: SRI1
lang: en
text: WDR15
lang: en
text: sensitization to ricin complex subunit 1
GeneType: Name: gene with protein product
Name: roundabout guidance receptor 1
Symbol: ROBO1
Synonyms: lang: en
text: DUTT1
lang: en
text: FLJ21882
lang: en
text: SAX3
GeneType: Name: gene with protein product
Name: prokineticin receptor 2
Symbol: PROKR2
Synonyms: lang: en
text: GPR73b
lang: en
text: GPRg2
lang: en
text: PKR2
lang: en
text: dJ680N4.3
GeneType: Name: gene with protein product
Name: HESX homeobox 1
Symbol: HESX1
Synonyms: lang: en
text: ANF
lang: en
text: RPX
lang: en
text: Rathke's pouch homeobox
GeneType: Name: gene with protein product
Name: LIM homeobox 4
Symbol: LHX4
Synonyms: lang: en
text: Gsh4
GeneType: Name: gene with protein product
Name: cell adhesion associated, oncogene regulated
Symbol: CDON
Synonyms: lang: en
text: CDO
lang: en
text: CDON1
lang: en
text: Ihog
lang: en
text: ORCAM
lang: en
text: cell adhesion molecule-related/down-regulated by oncogenes
GeneType: Name: gene with protein product
Name: G protein-coupled receptor 161
Symbol: GPR161
Synonyms: lang: en
text: RE2
GeneType: Name: gene with protein product
Rare disease: Combined pituitary hormone deficiencies, genetic forms (Orphanet code 95494)
Associated genes:
Name: forkhead box A2
Symbol: FOXA2
GeneType: Name: gene with protein product
Name: POU class 1 homeobox 1
Symbol: POU1F1
Synonyms: lang: en
text: GHF-1
lang: en
text: PIT-1
lang: en
text: POU1F1a
lang: en
text: growth hormone factor 1
lang: en
text: pituitary transcript factor 1
GeneType: Name: gene with protein product
Name: PROP paired-like homeobox 1
Symbol: PROP1
GeneType: Name: gene with protein product
Name: HESX homeobox 1
Symbol: HESX1
Synonyms: lang: en
text: ANF
lang: en
text: RPX
lang: en
text: Rathke's pouch homeobox
GeneType: Name: gene with protein product
Name: orthodenticle homeobox 2
Symbol: OTX2
GeneType: Name: gene with protein product
Name: LIM homeobox 4
Symbol: LHX4
Synonyms: lang: en
text: Gsh4
GeneType: Name: gene with protein product
Name: GLI family zinc finger 2
Symbol: GLI2
Synonyms: lang: en
text: HPE9
lang: en
text: THP1
lang: en
text: THP2
lang: en
text: tax helper protein 1
lang: en
text: tax helper protein 2
lang: en
text: tax-responsive element-2 holding protein
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (Orphanet code 95433)
Associated genes:
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: Autosomal recessive cerebellar ataxia-movement disorder syndrome (Orphanet code 95434)
Associated genes:
Name: VPS41 subunit of HOPS complex
Symbol: VPS41
Synonyms: lang: en
text: HVSP41
GeneType: Name: gene with protein product
Name: vacuolar protein sorting 13 homolog D
Symbol: VPS13D
Synonyms: lang: en
text: BLTP5D
lang: en
text: FLJ10619
lang: en
text: KIAA0453
lang: en
text: bridge-like lipid transfer protein family member 5D
GeneType: Name: gene with protein product
Rare disease: Lissencephaly due to LIS1 mutation (Orphanet code 95232)
Associated genes:
Name: platelet activating factor acetylhydrolase 1b regulatory subunit 1
Symbol: PAFAH1B1
Synonyms: lang: en
text: LIS1
lang: en
text: NudF
lang: en
text: PAFAH
lang: en
text: lissencephaly-1
GeneType: Name: gene with protein product
Rare disease: Hepatoerythropoietic porphyria (Orphanet code 95159)
Associated genes:
Name: uroporphyrinogen decarboxylase
Symbol: UROD
GeneType: Name: gene with protein product
Rare disease: COG8-CDG (Orphanet code 95428)
Associated genes:
Name: component of oligomeric golgi complex 8
Symbol: COG8
Synonyms: lang: en
text: DOR1
lang: en
text: FLJ22315
GeneType: Name: gene with protein product
Rare disease: Cerebellar ataxia, Cayman type (Orphanet code 94122)
Associated genes:
Name: ATCAY kinesin light chain interacting caytaxin
Symbol: ATCAY
Synonyms: lang: en
text: BNIP-H
lang: en
text: Cayman ataxia
lang: en
text: caytaxin
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia with axonal neuropathy type 1 (Orphanet code 94124)
Associated genes:
Name: tyrosyl-DNA phosphodiesterase 1
Symbol: TDP1
Synonyms: lang: en
text: FLJ11090
lang: en
text: SCAN1
GeneType: Name: gene with protein product
Rare disease: Recessive mitochondrial ataxia syndrome (Orphanet code 94125)
Associated genes:
Name: DNA polymerase gamma, catalytic subunit
Symbol: POLG
Synonyms: lang: en
text: POLG1
lang: en
text: POLGA
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 7 (Orphanet code 94147)
Associated genes:
Name: ataxin 7
Symbol: ATXN7
Synonyms: lang: en
text: ADCAII
lang: en
text: Autosomal dominant cerebellar ataxia with retinal degeneration
lang: en
text: OPCA3
lang: en
text: SAGA associated factor 73 kDa homolog (S. cerevisiae)
lang: en
text: SGF73
GeneType: Name: gene with protein product
Rare disease: Anonychia congenita totalis (Orphanet code 94150)
Associated genes:
Name: R-spondin 4
Symbol: RSPO4
Synonyms: lang: en
text: dJ824F16.3
GeneType: Name: gene with protein product
Rare disease: Deafness-infertility syndrome (Orphanet code 94064)
Associated genes:
Name: cation channel sperm associated 2
Symbol: CATSPER2
GeneType: Name: gene with protein product
Name: stereocilin
Symbol: STRC
GeneType: Name: gene with protein product
Rare disease: 12q14 microdeletion syndrome (Orphanet code 94063)
Associated genes:
Name: LEM domain containing 3
Symbol: LEMD3
Synonyms: lang: en
text: MAN antigen 1
lang: en
text: MAN1
lang: en
text: inner nuclear membrane protein Man1
GeneType: Name: gene with protein product
Name: high mobility group AT-hook 2
Symbol: HMGA2
Synonyms: lang: en
text: BABL
lang: en
text: LIPO
GeneType: Name: gene with protein product
Rare disease: 15q24 microdeletion syndrome (Orphanet code 94065)
Associated genes:
Name: SIN3 transcription regulator family member A
Symbol: SIN3A
Synonyms: lang: en
text: DKFZP434K2235
lang: en
text: KIAA0700
GeneType: Name: gene with protein product
Rare disease: Spondyloepiphyseal dysplasia congenita (Orphanet code 94068)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Partington syndrome (Orphanet code 94083)
Associated genes:
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
Rare disease: Hereditary renal hypouricemia (Orphanet code 94088)
Associated genes:
Name: solute carrier family 22 member 12
Symbol: SLC22A12
Synonyms: lang: en
text: OAT4L
lang: en
text: RST
lang: en
text: UAT
lang: en
text: URAT1
lang: en
text: hURAT1
lang: en
text: renal-specific transporter
lang: en
text: urate anion transporter 1
GeneType: Name: gene with protein product
Name: solute carrier family 2 member 9
Symbol: SLC2A9
Synonyms: lang: en
text: GLUTX
lang: en
text: Glut9
lang: en
text: URATv1
lang: en
text: urate voltage-driven efflux transporter 1
GeneType: Name: gene with protein product
Rare disease: Pseudohypoparathyroidism type 1B (Orphanet code 94089)
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
Name: syntaxin 16
Symbol: STX16
Synonyms: lang: en
text: SYN-16
lang: en
text: SYN16
lang: en
text: hsyn16
GeneType: Name: gene with protein product
Rare disease: Distal deletion 10q (Orphanet code 96148)
Associated genes:
Name: EBF transcription factor 3
Symbol: EBF3
Synonyms: lang: en
text: COE3
lang: en
text: DKFZp667B0210
lang: en
text: Transcription factor COE3
GeneType: Name: gene with protein product
Rare disease: Kleefstra syndrome due to 9q34 microdeletion (Orphanet code 96147)
Associated genes:
Name: euchromatic histone lysine methyltransferase 1
Symbol: EHMT1
Synonyms: lang: en
text: Eu-HMTase1
lang: en
text: FLJ12879
lang: en
text: FLJ40292
lang: en
text: GLP
lang: en
text: KIAA1876
lang: en
text: KMT1D
lang: en
text: bA188C12.1
GeneType: Name: gene with protein product
Rare disease: Thyroid hypoplasia (Orphanet code 95720)
Associated genes:
Name: solute carrier family 26 member 4
Symbol: SLC26A4
Synonyms: lang: en
text: PDS
lang: en
text: Pendred syndrome
lang: en
text: pendrin
GeneType: Name: gene with protein product
Name: thyroid stimulating hormone receptor
Symbol: TSHR
Synonyms: lang: en
text: LGR3
GeneType: Name: gene with protein product
Name: paired box 8
Symbol: PAX8
Synonyms: lang: en
text: PAX-8
GeneType: Name: gene with protein product
Rare disease: IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome (Orphanet code 597623)
Associated genes:
Name: interferon regulatory factor 2 binding protein like
Symbol: IRF2BPL
Synonyms: lang: en
text: EAP1
lang: en
text: KIAA1865
lang: en
text: enhanced at puberty 1
GeneType: Name: gene with protein product
Rare disease: Oculocutaneous albinism type 8 (Orphanet code 597733)
Associated genes:
Name: dopachrome tautomerase
Symbol: DCT
Synonyms: lang: en
text: L-dopachrome isomerase
lang: en
text: L-dopachrome tautomerase
lang: en
text: TRP-2
lang: en
text: TRP2
lang: en
text: dopachrome delta-isomerase
GeneType: Name: gene with protein product
Rare disease: Luscan-Lumish syndrome (Orphanet code 597738)
Associated genes:
Name: SET domain containing 2, histone lysine methyltransferase
Symbol: SETD2
Synonyms: lang: en
text: FLJ23184
lang: en
text: HIF-1
lang: en
text: HYPB
lang: en
text: KIAA1732
lang: en
text: KMT3A
GeneType: Name: gene with protein product
Rare disease: Euthyroid dysprealbuminemic hyperthyroxinemia (Orphanet code 597939)
Associated genes:
Name: transthyretin
Symbol: TTR
Synonyms: lang: en
text: CTS
lang: en
text: HsT2651
GeneType: Name: gene with protein product
Rare disease: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome (Orphanet code 597743)
Associated genes:
Name: SET domain containing 2, histone lysine methyltransferase
Symbol: SETD2
Synonyms: lang: en
text: FLJ23184
lang: en
text: HIF-1
lang: en
text: HYPB
lang: en
text: KIAA1732
lang: en
text: KMT3A
GeneType: Name: gene with protein product
Rare disease: Pediatric systemic lupus erythematosus (Orphanet code 93552)
Associated genes:
Name: spermidine/spermine N1-acetyltransferase 1
Symbol: SAT1
Synonyms: lang: en
text: SSAT
lang: en
text: diamine N-acetyltransferase 1
GeneType: Name: gene with protein product
Name: signal transducer and activator of transcription 4
Symbol: STAT4
GeneType: Name: gene with protein product
Name: secreted phosphoprotein 1
Symbol: SPP1
Synonyms: lang: en
text: BSPI
lang: en
text: ETA-1
lang: en
text: early T-lymphocyte activation 1
lang: en
text: lnc-PKD2-2-3
GeneType: Name: gene with protein product
Name: interleukin 1 receptor associated kinase 1
Symbol: IRAK1
Synonyms: lang: en
text: IRAK
lang: en
text: pelle
GeneType: Name: gene with protein product
Rare disease: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome (Orphanet code 597874)
Associated genes:
Name: methenyltetrahydrofolate synthetase
Symbol: MTHFS
Synonyms: lang: en
text: 5,10-methenyltetrahydrofolate synthetase
lang: en
text: 5-formyltetrahydrofolate cyclo-ligase
lang: en
text: HsT19268
GeneType: Name: gene with protein product
Rare disease: AFib amyloidosis (Orphanet code 93562)
Associated genes:
Name: fibrinogen alpha chain
Symbol: FGA
GeneType: Name: gene with protein product
Rare disease: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome (Orphanet code 598603)
Associated genes:
Name: potassium two pore domain channel subfamily K member 4
Symbol: KCNK4
Synonyms: lang: en
text: K2p4.1
lang: en
text: TRAAK
GeneType: Name: gene with protein product
Rare disease: FOXG1 syndrome due to intragenic alteration (Orphanet code 598164)
Associated genes:
Name: forkhead box G1
Symbol: FOXG1
Synonyms: lang: en
text: BF1
lang: en
text: HBF-3
lang: en
text: HFK1
lang: en
text: HFK2
lang: en
text: HFK3
lang: en
text: QIN
lang: en
text: brain factor 1
GeneType: Name: gene with protein product
Rare disease: AApoAI amyloidosis (Orphanet code 93560)
Associated genes:
Name: apolipoprotein A1
Symbol: APOA1
GeneType: Name: gene with protein product
Rare disease: ALys amyloidosis (Orphanet code 93561)
Associated genes:
Name: lysozyme
Symbol: LYZ
Synonyms: lang: en
text: renal amyloidosis
GeneType: Name: gene with protein product
Rare disease: Dense deposit disease (Orphanet code 93571)
Associated genes:
Name: complement factor H
Symbol: CFH
Synonyms: lang: en
text: ARMD4
lang: en
text: ARMS1
lang: en
text: FHL1
lang: en
text: H factor 2 (complement)
lang: en
text: HUS
lang: en
text: age-related maculopathy susceptibility 1
lang: en
text: beta-1H
GeneType: Name: gene with protein product
Name: complement factor H related 1
Symbol: CFHR1
Synonyms: lang: en
text: CFHL
lang: en
text: FHR1
lang: en
text: H36-1
lang: en
text: H36-2
GeneType: Name: gene with protein product
Rare disease: Scheie syndrome (Orphanet code 93474)
Associated genes:
Name: alpha-L-iduronidase
Symbol: IDUA
Synonyms: lang: en
text: MPS1
lang: en
text: MPSI
lang: en
text: mucopolysaccharidosis type I
GeneType: Name: gene with protein product
Rare disease: Hurler-Scheie syndrome (Orphanet code 93476)
Associated genes:
Name: alpha-L-iduronidase
Symbol: IDUA
Synonyms: lang: en
text: MPS1
lang: en
text: MPSI
lang: en
text: mucopolysaccharidosis type I
GeneType: Name: gene with protein product
Rare disease: Hurler syndrome (Orphanet code 93473)
Associated genes:
Name: alpha-L-iduronidase
Symbol: IDUA
Synonyms: lang: en
text: MPS1
lang: en
text: MPSI
lang: en
text: mucopolysaccharidosis type I
GeneType: Name: gene with protein product
Rare disease: Juvenile sialidosis type 2 (Orphanet code 93399)
Associated genes:
Name: neuraminidase 1
Symbol: NEU1
Synonyms: lang: en
text: sialidase-1
GeneType: Name: gene with protein product
Rare disease: Congenital sialidosis type 2 (Orphanet code 93400)
Associated genes:
Name: neuraminidase 1
Symbol: NEU1
Synonyms: lang: en
text: sialidase-1
GeneType: Name: gene with protein product
Rare disease: STXBP1-related encephalopathy (Orphanet code 599373)
Associated genes:
Name: syntaxin binding protein 1
Symbol: STXBP1
Synonyms: lang: en
text: MUNC18-1
lang: en
text: UNC18
lang: en
text: hUNC18
lang: en
text: nSec1
lang: en
text: rbSec1
lang: en
text: syntaxin-binding protein 1
GeneType: Name: gene with protein product
Rare disease: Hypomyelination of early myelinating structures (Orphanet code 599376)
Associated genes:
Name: proteolipid protein 1
Symbol: PLP1
Synonyms: lang: en
text: GPM6C
lang: en
text: Pelizaeus-Merzbacher disease
GeneType: Name: gene with protein product
Rare disease: Syndactyly type 4 (Orphanet code 93405)
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: Hereditary angioedema with normal C1Inh not related to F12 or PLG variant (Orphanet code 599418)
Associated genes:
Name: angiopoietin 1
Symbol: ANGPT1
Synonyms: lang: en
text: AGPT-1
lang: en
text: Ang1
lang: en
text: KIAA0003
GeneType: Name: gene with protein product
Name: myoferlin
Symbol: MYOF
Synonyms: lang: en
text: KIAA1207
lang: en
text: fer-1-like family member 3
GeneType: Name: gene with protein product
Name: kininogen 1
Symbol: KNG1
Synonyms: lang: en
text: BK
lang: en
text: HMWK
lang: en
text: alpha-2-thiol proteinase inhibitor
lang: en
text: bradykinin
lang: en
text: high-molecular-weight kininogen
GeneType: Name: gene with protein product
Name: heparan sulfate-glucosamine 3-sulfotransferase 6
Symbol: HS3ST6
GeneType: Name: gene with protein product
Rare disease: Syndactyly type 3 (Orphanet code 93404)
Associated genes:
Name: gap junction protein alpha 1
Symbol: GJA1
Synonyms: lang: en
text: CX43
lang: en
text: ODD
lang: en
text: ODOD
lang: en
text: SDTY3
lang: en
text: connexin 43
lang: en
text: oculodentodigital dysplasia (syndactyly type III)
GeneType: Name: gene with protein product
Rare disease: Syndactyly type 5 (Orphanet code 93406)
Associated genes:
Name: homeobox D13
Symbol: HOXD13
Synonyms: lang: en
text: synpolydactyly
GeneType: Name: gene with protein product
Rare disease: Brachydactyly-syndactyly, Zhao type (Orphanet code 93409)
Associated genes:
Name: homeobox D13
Symbol: HOXD13
Synonyms: lang: en
text: synpolydactyly
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (Orphanet code 93360)
Associated genes:
Name: kinesin family member 22
Symbol: KIF22
Synonyms: lang: en
text: Kid
lang: en
text: OBP-1
lang: en
text: OBP-2
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (Orphanet code 93358)
Associated genes:
Name: discoidin domain receptor tyrosine kinase 2
Symbol: DDR2
Synonyms: lang: en
text: TKT
GeneType: Name: gene with protein product
Rare disease: SPONASTRIME dysplasia (Orphanet code 93357)
Associated genes:
Name: tonsoku like, DNA repair protein
Symbol: TONSL
Synonyms: lang: en
text: IKBR
GeneType: Name: gene with protein product
Rare disease: CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome (Orphanet code 599082)
Associated genes:
Name: chromodomain helicase DNA binding protein 3
Symbol: CHD3
Synonyms: lang: en
text: Mi-2a
lang: en
text: Mi2-ALPHA
lang: en
text: ZFH
GeneType: Name: gene with protein product