TaoMedAI/RareMedData huggingface dataset:
Rare disease: Autosomal recessive spastic paraplegia type 67 (Orphanet code 401820)
Associated genes:
Name: post-GPI attachment to proteins inositol deacylase 1
Symbol: PGAP1
Synonyms: lang: en
text: Bst1
lang: en
text: FLJ12377
lang: en
text: GPI inositol-deacylase
lang: en
text: SPG67
GeneType: Name: gene with protein product
Rare disease: Childhood-onset spasticity with hyperglycinemia (Orphanet code 401866)
Associated genes:
Name: glutaredoxin 5
Symbol: GLRX5
Synonyms: lang: en
text: GRX5
lang: en
text: PR01238
GeneType: Name: gene with protein product
Rare disease: Multiple mitochondrial dysfunctions syndrome type 1 (Orphanet code 401869)
Associated genes:
Name: NFU1 iron-sulfur cluster scaffold
Symbol: NFU1
Synonyms: lang: en
text: CGI-33
lang: en
text: NIFUC
lang: en
text: NifU
GeneType: Name: gene with protein product
Rare disease: Multiple mitochondrial dysfunctions syndrome type 2 (Orphanet code 401874)
Associated genes:
Name: bolA family member 3
Symbol: BOLA3
GeneType: Name: gene with protein product
Rare disease: Autosomal spastic paraplegia type 72 (Orphanet code 401849)
Associated genes:
Name: receptor accessory protein 2
Symbol: REEP2
Synonyms: lang: en
text: SGC32445
lang: en
text: SPG72
lang: en
text: Yip2d
GeneType: Name: gene with protein product
Rare disease: Lipoic acid synthetase deficiency (Orphanet code 401859)
Associated genes:
Name: lipoic acid synthetase
Symbol: LIAS
Synonyms: lang: en
text: LAS
lang: en
text: Lipoyl synthase, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Lipoyl transferase 1 deficiency (Orphanet code 401862)
Associated genes:
Name: lipoyltransferase 1
Symbol: LIPT1
Synonyms: lang: en
text: MGC12290
lang: en
text: MGC13378
GeneType: Name: gene with protein product
Rare disease: Female infertility due to an implantation defect of genetic origin (Orphanet code 400025)
Associated genes:
Name: ZFP36 ring finger protein like 2
Symbol: ZFP36L2
Synonyms: lang: en
text: ERF2
lang: en
text: RNF162C
lang: en
text: TIS11D
GeneType: Name: gene with protein product
Rare disease: Fibrolamellar hepatocellular carcinoma (Orphanet code 401920)
Associated genes:
Name: DnaJ heat shock protein family (Hsp40) member B1
Symbol: DNAJB1
Synonyms: lang: en
text: Hsp40
lang: en
text: RSPH16B
lang: en
text: Sis1
lang: en
text: radial spoke 16 homolog B (Chlamydomonas)
GeneType: Name: gene with protein product
Name: protein kinase cAMP-activated catalytic subunit alpha
Symbol: PRKACA
Synonyms: lang: en
text: PKA C-alpha
lang: en
text: PKACa
lang: en
text: cAMP-dependent protein kinase catalytic subunit alpha
GeneType: Name: gene with protein product
Rare disease: AXIN2-related attenuated familial adenomatous polyposis (Orphanet code 401911)
Associated genes:
Name: axin 2
Symbol: AXIN2
Synonyms: lang: en
text: DKFZp781B0869
lang: en
text: MGC126582
lang: en
text: axil
lang: en
text: conductin
GeneType: Name: gene with protein product
Rare disease: Huntington disease-like syndrome due to C9ORF72 expansions (Orphanet code 401901)
Associated genes:
Name: C9orf72-SMCR8 complex subunit
Symbol: C9ORF72
Synonyms: lang: en
text: DENND9
lang: en
text: DENNL72
lang: en
text: MGC23980
GeneType: Name: gene with protein product
Rare disease: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome (Orphanet code 401959)
Associated genes:
Name: karyopherin subunit alpha 7
Symbol: KPNA7
Synonyms: lang: en
text: IPOA8
lang: en
text: importin alpha 8
GeneType: Name: gene with protein product
Rare disease: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Orphanet code 401948)
Associated genes:
Name: carbonic anhydrase 5A
Symbol: CA5A
Synonyms: lang: en
text: CAV
lang: en
text: CAVA
GeneType: Name: gene with protein product
Rare disease: Moyamoya disease with early-onset achalasia (Orphanet code 401945)
Associated genes:
Name: guanylate cyclase 1 soluble subunit alpha 1
Symbol: GUCY1A1
Synonyms: lang: en
text: GC-SA3
GeneType: Name: gene with protein product
Rare disease: 1p31p32 microdeletion syndrome (Orphanet code 401986)
Associated genes:
Name: nuclear factor I A
Symbol: NFIA
Synonyms: lang: en
text: KIAA1439
lang: en
text: NFI-L
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type (Orphanet code 401979)
Associated genes:
Name: presequence translocase associated motor 16
Symbol: PAM16
Synonyms: lang: en
text: Magmas
lang: en
text: TIMM16
lang: en
text: Tim16
lang: en
text: mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction
GeneType: Name: gene with protein product
Rare disease: MEND syndrome (Orphanet code 401973)
Associated genes:
Name: EBP cholestenol delta-isomerase
Symbol: EBP
Synonyms: lang: en
text: 3-beta-hydroxysteroid-delta-8,delta-7-isomerase
lang: en
text: CHO2
lang: en
text: CPX
lang: en
text: CPXD
lang: en
text: Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
lang: en
text: sterol 8-isomerase
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (Orphanet code 401964)
Associated genes:
Name: DDB1 and CUL4 associated factor 8
Symbol: DCAF8
Synonyms: lang: en
text: FLJ35857
lang: en
text: H326
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (Orphanet code 402003)
Associated genes:
Name: keratin 6C
Symbol: KRT6C
GeneType: Name: gene with protein product
Rare disease: Karyomegalic interstitial nephritis (Orphanet code 401996)
Associated genes:
Name: FANCD2 and FANCI associated nuclease 1
Symbol: FAN1
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with t(9;11)(p22;q23) (Orphanet code 402017)
Associated genes:
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: MLLT3 super elongation complex subunit
Symbol: MLLT3
Synonyms: lang: en
text: AF-9
lang: en
text: AF9
lang: en
text: YEATS3
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) (Orphanet code 402020)
Associated genes:
Name: MDS1 and EVI1 complex locus
Symbol: MECOM
Synonyms: lang: en
text: KMT8E
lang: en
text: MDS1-EVI1
lang: en
text: PR domain 3
lang: en
text: PRDM3
GeneType: Name: gene with protein product
Name: ribophorin I
Symbol: RPN1
Synonyms: lang: en
text: OST1
lang: en
text: oligosaccharyltransferase 1 homolog (S. cerevisiae)
lang: en
text: oligosaccharyltransferase complex subunit (non-catalytic)
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with t(6;9)(p23;q34) (Orphanet code 402014)
Associated genes:
Name: nucleoporin 214
Symbol: NUP214
Synonyms: lang: en
text: CAIN
lang: en
text: CAN
lang: en
text: CAN protein, putative oncogene
lang: en
text: D9S46E
lang: en
text: N214
lang: en
text: nuclear pore complex protein Nup214
GeneType: Name: gene with protein product
Name: DEK proto-oncogene
Symbol: DEK
Synonyms: lang: en
text: D6S231E
GeneType: Name: gene with protein product
Rare disease: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) (Orphanet code 402023)
Associated genes:
Name: RNA binding motif protein 15
Symbol: RBM15
Synonyms: lang: en
text: OTT
lang: en
text: OTT1
lang: en
text: one twenty-two
GeneType: Name: gene with protein product
Name: myocardin related transcription factor A
Symbol: MRTFA
Synonyms: lang: en
text: BSAC
lang: en
text: KIAA1438
lang: en
text: MAL
lang: en
text: MKL
lang: en
text: MRTF-A
lang: en
text: basic, SAP and coiled-coil domain
lang: en
text: megakaryocytic acute leukemia
lang: en
text: myocardin-related transcription factor A
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with NPM1 somatic mutations (Orphanet code 402026)
Associated genes:
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: Progressive myoclonic epilepsy type 5 (Orphanet code 402082)
Associated genes:
Name: prickle planar cell polarity protein 2
Symbol: PRICKLE2
Synonyms: lang: en
text: DKFZp686D143
GeneType: Name: gene with protein product
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: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (Orphanet code 402364)
Associated genes:
Name: mediator complex subunit 17
Symbol: MED17
Synonyms: lang: en
text: CRSP77
lang: en
text: DRIP80
lang: en
text: SRB4
lang: en
text: TRAP80
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive distal renal tubular acidosis (Orphanet code 402041)
Associated genes:
Name: forkhead box I1
Symbol: FOXI1
Synonyms: lang: en
text: FREAC6
GeneType: Name: gene with protein product
Name: ATPase H+ transporting V0 subunit a4
Symbol: ATP6V0A4
Synonyms: lang: en
text: RDRTA2
lang: en
text: RTADR
lang: en
text: Stv1
lang: en
text: V-ATPase subunit a4
lang: en
text: VPP2
lang: en
text: Vph1
lang: en
text: a4
lang: en
text: vacuolar proton pump subunit 2
GeneType: Name: gene with protein product
Name: ATPase H+ transporting V1 subunit B1
Symbol: ATP6V1B1
Synonyms: lang: en
text: RTA1B
lang: en
text: Renal tubular acidosis with deafness
lang: en
text: V-ATPase subunit B1
lang: en
text: VATB
lang: en
text: Vma2
GeneType: Name: gene with protein product
Name: WD repeat domain 72
Symbol: WDR72
Synonyms: lang: en
text: FLJ38736
GeneType: Name: gene with protein product
Rare disease: Familial bicuspid aortic valve (Orphanet code 402075)
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: GATA binding protein 5
Symbol: GATA5
Synonyms: lang: en
text: GATAS
lang: en
text: bB379O24.1
GeneType: Name: gene with protein product
Name: notch receptor 1
Symbol: NOTCH1
GeneType: Name: gene with protein product
Name: SMAD family member 6
Symbol: SMAD6
Synonyms: lang: en
text: HsT17432
GeneType: Name: gene with protein product
Rare disease: Scott syndrome (Orphanet code 806)
Associated genes:
Name: anoctamin 6
Symbol: ANO6
Synonyms: lang: en
text: DKFZp313M0720
GeneType: Name: gene with protein product
Rare disease: Severe intellectual disability-progressive spastic diplegia syndrome (Orphanet code 404473)
Associated genes:
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
Rare disease: Multisystemic smooth muscle dysfunction syndrome (Orphanet code 404463)
Associated genes:
Name: actin alpha 2, smooth muscle
Symbol: ACTA2
Synonyms: lang: en
text: ACTSA
GeneType: Name: gene with protein product
Rare disease: Female infertility due to zona pellucida defect (Orphanet code 404466)
Associated genes:
Name: zona pellucida glycoprotein 2
Symbol: ZP2
Synonyms: lang: en
text: ZPA
lang: en
text: zona pellucida 2
GeneType: Name: gene with protein product
Name: zona pellucida glycoprotein 3
Symbol: ZP3
Synonyms: lang: en
text: ZP3-372
lang: en
text: ZP3-424
lang: en
text: ZPC
GeneType: Name: gene with protein product
Name: zona pellucida glycoprotein 1
Symbol: ZP1
Synonyms: lang: en
text: ZPB1
GeneType: Name: gene with protein product
Rare disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (Orphanet code 404451)
Associated genes:
Name: fibulin 1
Symbol: FBLN1
Synonyms: lang: en
text: FBLN
GeneType: Name: gene with protein product
Rare disease: Alacrimia-choreoathetosis-liver dysfunction syndrome (Orphanet code 404454)
Associated genes:
Name: N-glycanase 1
Symbol: NGLY1
Synonyms: lang: en
text: FLJ11005
lang: en
text: PNG-1
lang: en
text: PNG1
lang: en
text: peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
lang: en
text: peptide:N-glycanase
GeneType: Name: gene with protein product
Rare disease: Tatton-Brown-Rahman syndrome (Orphanet code 404443)
Associated genes:
Name: DNA methyltransferase 3 alpha
Symbol: DNMT3A
GeneType: Name: gene with protein product
Rare disease: ADNP syndrome (Orphanet code 404448)
Associated genes:
Name: activity dependent neuroprotector homeobox
Symbol: ADNP
Synonyms: lang: en
text: ADNP homeobox 1
lang: en
text: ADNP1
lang: en
text: KIAA0784
lang: en
text: activity-dependent neuroprotective protein
GeneType: Name: gene with protein product
Rare disease: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome (Orphanet code 404437)
Associated genes:
Name: glutaminyl-tRNA synthetase 1
Symbol: QARS1
Synonyms: lang: en
text: glutamine tRNA ligase
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency (Orphanet code 404440)
Associated genes:
Name: SET domain containing 5
Symbol: SETD5
Synonyms: lang: en
text: FLJ10707
lang: en
text: SETD5A
GeneType: Name: gene with protein product
Rare disease: Familial atypical multiple mole melanoma syndrome (Orphanet code 404560)
Associated genes:
Name: cyclin dependent kinase inhibitor 2A
Symbol: CDKN2A
Synonyms: lang: en
text: ARF
lang: en
text: CAI2
lang: en
text: CDK4I
lang: en
text: CDKN2A/ARF Intron 2 lncRNA
lang: en
text: CMM2
lang: en
text: INK4
lang: en
text: INK4a
lang: en
text: MTS1
lang: en
text: P16-INK4A
lang: en
text: cyclin-dependent kinase 4 inhibitor A
lang: en
text: inhibitor of cdk4 A
lang: en
text: multiple tumour suppressor 1
lang: en
text: p14
lang: en
text: p14 alternate open reading frame
lang: en
text: p14ARF
lang: en
text: p16
lang: en
text: p16INK4a
lang: en
text: p19
lang: en
text: p19 alternate open reading frame
lang: en
text: p19Arf
GeneType: Name: gene with protein product
Rare disease: Adenosine deaminase 2 deficiency (Orphanet code 404553)
Associated genes:
Name: adenosine deaminase 2
Symbol: ADA2
Synonyms: lang: en
text: ADGF
GeneType: Name: gene with protein product
Rare disease: DITRA (Orphanet code 404546)
Associated genes:
Name: interleukin 36 receptor antagonist
Symbol: IL36RN
Synonyms: lang: en
text: FIL1
lang: en
text: FIL1(DELTA)
lang: en
text: FIL1D
lang: en
text: IL-1 related protein 3
lang: en
text: IL-1F5
lang: en
text: IL1HY1
lang: en
text: IL1L1
lang: en
text: IL1RP3
lang: en
text: IL36RA
lang: en
text: MGC29840
lang: en
text: family of interleukin 1-delta
lang: en
text: interleukin-1 HY1
lang: en
text: interleukin-1 receptor antagonist homolog 1
GeneType: Name: gene with protein product
Rare disease: Spinal muscular atrophy with respiratory distress type 2 (Orphanet code 404521)
Associated genes:
Name: LAS1 like ribosome biogenesis factor
Symbol: LAS1L
Synonyms: lang: en
text: FLJ12525
lang: en
text: Las1
GeneType: Name: gene with protein product
Rare disease: Clear cell papillary renal cell carcinoma (Orphanet code 404511)
Associated genes:
Name: HNF1 homeobox A
Symbol: HNF1A
Synonyms: lang: en
text: HNF1
lang: en
text: HNF1a
lang: en
text: LFB1
GeneType: Name: gene with protein product
Name: transmembrane protein 127
Symbol: TMEM127
Synonyms: lang: en
text: FLJ20507
lang: en
text: FLJ22257
GeneType: Name: gene with protein product
Name: melanocyte inducing transcription factor
Symbol: MITF
Synonyms: lang: en
text: MI
lang: en
text: bHLHe32
lang: en
text: homolog of mouse microphthalmia
GeneType: Name: gene with protein product
Name: polybromo 1
Symbol: PBRM1
Synonyms: lang: en
text: BAF180
lang: en
text: PB1
lang: en
text: SMARCH1
GeneType: Name: gene with protein product
Rare disease: Chondromyxoid fibroma (Orphanet code 404507)
Associated genes:
Name: glutamate metabotropic receptor 1
Symbol: GRM1
Synonyms: lang: en
text: GPRC1A
lang: en
text: MGLUR1
lang: en
text: PPP1R85
lang: en
text: mGlu1
lang: en
text: protein phosphatase 1, regulatory subunit 85
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency (Orphanet code 404499)
Associated genes:
Name: rubicon autophagy regulator
Symbol: RUBCN
Synonyms: lang: en
text: rubicon
lang: en
text: rundataxin
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency (Orphanet code 404493)
Associated genes:
Name: tyrosyl-DNA phosphodiesterase 2
Symbol: TDP2
GeneType: Name: gene with protein product
Rare disease: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome (Orphanet code 404476)
Associated genes:
Name: dicer 1, ribonuclease III
Symbol: DICER1
Synonyms: lang: en
text: Dicer
lang: en
text: HERNA
lang: en
text: K12H4.8-LIKE
lang: en
text: KIAA0928
lang: en
text: dicer 1, double-stranded RNA-specific endoribonuclease
GeneType: Name: gene with protein product
Rare disease: Mild phosphoribosylpyrophosphate synthetase superactivity (Orphanet code 411536)
Associated genes:
Name: phosphoribosyl pyrophosphate synthetase 1
Symbol: PRPS1
Synonyms: lang: en
text: CMTX5
lang: en
text: DFNX1
lang: en
text: PPRibP
lang: en
text: PRS I
lang: en
text: PRS-I
lang: en
text: ribose-phosphate diphosphokinase 1
GeneType: Name: gene with protein product
Rare disease: Severe phosphoribosylpyrophosphate synthetase superactivity (Orphanet code 411543)
Associated genes:
Name: phosphoribosyl pyrophosphate synthetase 1
Symbol: PRPS1
Synonyms: lang: en
text: CMTX5
lang: en
text: DFNX1
lang: en
text: PPRibP
lang: en
text: PRS I
lang: en
text: PRS-I
lang: en
text: ribose-phosphate diphosphokinase 1
GeneType: Name: gene with protein product
Rare disease: Wolfram-like syndrome (Orphanet code 411590)
Associated genes:
Name: wolframin ER transmembrane glycoprotein
Symbol: WFS1
Synonyms: lang: en
text: DIDMOAD
lang: en
text: WFS
GeneType: Name: gene with protein product
Rare disease: Hereditary late-onset Parkinson disease (Orphanet code 411602)
Associated genes:
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: glucosylceramidase beta 1
Symbol: GBA1
Synonyms: lang: en
text: GBA1
lang: en
text: glucocerebrosidase
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: eukaryotic translation initiation factor 4 gamma 1
Symbol: EIF4G1
Synonyms: lang: en
text: PARK18
lang: en
text: p220
GeneType: Name: gene with protein product
Name: VPS35 retromer complex component
Symbol: VPS35
Synonyms: lang: en
text: FLJ10752
lang: en
text: MEM3
lang: en
text: PARK17
GeneType: Name: gene with protein product
Name: DnaJ heat shock protein family (Hsp40) member C13
Symbol: DNAJC13
Synonyms: lang: en
text: KIAA0678
lang: en
text: RME8
GeneType: Name: gene with protein product
Name: GRB10 interacting GYF protein 2
Symbol: GIGYF2
Synonyms: lang: en
text: GYF domain containing 2
lang: en
text: GYF2
lang: en
text: KIAA0642
GeneType: Name: gene with protein product
Rare disease: Infantile nephropathic cystinosis (Orphanet code 411629)
Associated genes:
Name: cystinosin, lysosomal cystine transporter
Symbol: CTNS
Synonyms: lang: en
text: CTNS-LSB
lang: en
text: PQLC4
lang: en
text: SLC66A4
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 10 (Orphanet code 411493)
Associated genes:
Name: cleavage factor polyribonucleotide kinase subunit 1
Symbol: CLP1
Synonyms: lang: en
text: ATP/GTPbinding protein
lang: en
text: HEAB
lang: en
text: hClp1
lang: en
text: polyribonucleotide 5'-hydroxyl-kinase
GeneType: Name: gene with protein product
Rare disease: Angelman syndrome due to a point mutation (Orphanet code 411511)
Associated genes:
Name: ubiquitin protein ligase E3A
Symbol: UBE3A
Synonyms: lang: en
text: ANCR
lang: en
text: AS
lang: en
text: Angelman syndrome
lang: en
text: E6-AP
lang: en
text: FLJ26981
GeneType: Name: gene with protein product
Rare disease: Angelman syndrome due to imprinting defect in 15q11-q13 (Orphanet code 411515)
Associated genes:
Name: small nuclear ribonucleoprotein polypeptide N
Symbol: SNRPN
Synonyms: lang: en
text: HCERN3
lang: en
text: RT-LI
lang: en
text: SM protein N
lang: en
text: SM-D
lang: en
text: SMN
lang: en
text: SNRNP-N
lang: en
text: SNURF-SNRPN
lang: en
text: small nuclear ribonucleoprotein N
lang: en
text: tissue-specific splicing protein
GeneType: Name: gene with protein product
Name: ubiquitin protein ligase E3A
Symbol: UBE3A
Synonyms: lang: en
text: ANCR
lang: en
text: AS
lang: en
text: Angelman syndrome
lang: en
text: E6-AP
lang: en
text: FLJ26981
GeneType: Name: gene with protein product
Name: ATPase phospholipid transporting 10A (putative)
Symbol: ATP10A
Synonyms: lang: en
text: ATPVA
lang: en
text: ATPVC
lang: en
text: KIAA0566
GeneType: Name: gene with protein product
Rare disease: Maternal riboflavin deficiency (Orphanet code 411712)
Associated genes:
Name: solute carrier family 52 member 1
Symbol: SLC52A1
Synonyms: lang: en
text: FLJ10060
lang: en
text: GPCR42
lang: en
text: PAR2
lang: en
text: RFVT1
lang: en
text: Riboflavin transporter 1
lang: en
text: hRFT1
lang: en
text: riboflavin transporter 1
GeneType: Name: gene with protein product
Rare disease: Familial isolated trichomegaly (Orphanet code 411788)
Associated genes:
Name: fibroblast growth factor 5
Symbol: FGF5
GeneType: Name: gene with protein product
Rare disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome (Orphanet code 411986)
Associated genes:
Name: dedicator of cytokinesis 7
Symbol: DOCK7
Synonyms: lang: en
text: KIAA1771
lang: en
text: ZIR2
GeneType: Name: gene with protein product
Rare disease: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome (Orphanet code 412022)
Associated genes:
Name: aspartate beta-hydroxylase
Symbol: ASPH
Synonyms: lang: en
text: BAH
lang: en
text: CASQ2BP1
lang: en
text: HAAH
lang: en
text: JCTN
lang: en
text: humbug
lang: en
text: junctate
lang: en
text: junctin
GeneType: Name: gene with protein product
Rare disease: Ocular cystinosis (Orphanet code 411641)
Associated genes:
Name: cystinosin, lysosomal cystine transporter
Symbol: CTNS
Synonyms: lang: en
text: CTNS-LSB
lang: en
text: PQLC4
lang: en
text: SLC66A4
GeneType: Name: gene with protein product
Rare disease: Juvenile nephropathic cystinosis (Orphanet code 411634)
Associated genes:
Name: cystinosin, lysosomal cystine transporter
Symbol: CTNS
Synonyms: lang: en
text: CTNS-LSB
lang: en
text: PQLC4
lang: en
text: SLC66A4
GeneType: Name: gene with protein product
Rare disease: Multicentric osteolysis-nodulosis-arthropathy spectrum (Orphanet code 371428)
Associated genes:
Name: matrix metallopeptidase 2
Symbol: MMP2
Synonyms: lang: en
text: TBE-1
GeneType: Name: gene with protein product
Name: matrix metallopeptidase 14
Symbol: MMP14
Synonyms: lang: en
text: MT1-MMP
lang: en
text: membrane type 1 metalloprotease
lang: en
text: membrane type 1-matrix metalloproteinase
GeneType: Name: gene with protein product
Rare disease: Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet code 371364)
Associated genes:
Name: sodium leak channel, non-selective
Symbol: NALCN
Synonyms: lang: en
text: CanIon
lang: en
text: bA430M15.1
GeneType: Name: gene with protein product
Name: unc-80 homolog, NALCN channel complex subunit
Symbol: UNC80
Synonyms: lang: en
text: FLJ33496
lang: en
text: KIAA1843
lang: en
text: UNC-80
GeneType: Name: gene with protein product