TaoMedAI/RareMedData huggingface dataset:
Rare disease: Proximal spinal muscular atrophy type 2 (Orphanet code 83418)
Associated genes:
Name: survival of motor neuron 2, centromeric
Symbol: SMN2
Synonyms: lang: en
text: BCD541
lang: en
text: GEMIN1
lang: en
text: SMNC
lang: en
text: TDRD16B
lang: en
text: tudor domain containing 16B
GeneType: Name: gene with protein product
Name: NLR family apoptosis inhibitory protein
Symbol: NAIP
Synonyms: lang: en
text: NLR family, BIR domain containing 1
lang: en
text: NLRB1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1
GeneType: Name: gene with protein product
Name: survival of motor neuron 1, telomeric
Symbol: SMN1
Synonyms: lang: en
text: BCD541
lang: en
text: GEMIN1
lang: en
text: SMA1
lang: en
text: SMA2
lang: en
text: SMA3
lang: en
text: SMNT
lang: en
text: TDRD16A
lang: en
text: gemin-1
lang: en
text: tudor domain containing 16A
GeneType: Name: gene with protein product
Rare disease: Desmoplastic small round cell tumor (Orphanet code 83469)
Associated genes:
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: EWS RNA binding protein 1
Symbol: EWSR1
Synonyms: lang: en
text: EWS
GeneType: Name: gene with protein product
Rare disease: Narcolepsy type 2 (Orphanet code 83465)
Associated genes:
Name: hypocretin neuropeptide precursor
Symbol: HCRT
Synonyms: lang: en
text: OX
lang: en
text: PPOX
lang: en
text: orexin
lang: en
text: prepro-orexin
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 II, DQ beta 1
Symbol: HLA-DQB1
Synonyms: lang: en
text: CELIAC1
lang: en
text: IDDM1
GeneType: Name: gene with protein product
Name: zinc finger protein 365
Symbol: ZNF365
Synonyms: lang: en
text: KIAA0844
lang: en
text: Su48
lang: en
text: Talanin
lang: en
text: UAN
GeneType: Name: gene with protein product
Rare disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome (Orphanet code 83473)
Associated genes:
Name: phosphoinositide-3-kinase regulatory subunit 2
Symbol: PIK3R2
Synonyms: lang: en
text: P85B
lang: en
text: p85
lang: en
text: p85-BETA
lang: en
text: p85beta
lang: en
text: phosphoinositide-3-kinase regulatory subunit beta
GeneType: Name: gene with protein product
Name: phosphoinositide-3-kinase regulatory subunit 2
Symbol: PIK3R2
Synonyms: lang: en
text: P85B
lang: en
text: p85
lang: en
text: p85-BETA
lang: en
text: p85beta
lang: en
text: phosphoinositide-3-kinase regulatory subunit beta
GeneType: Name: gene with protein product
Name: cyclin D2
Symbol: CCND2
Synonyms: lang: en
text: G1/S-specific cyclin D2
GeneType: Name: gene with protein product
Name: AKT serine/threonine kinase 3
Symbol: AKT3
Synonyms: lang: en
text: PKBG
lang: en
text: PRKBG
lang: en
text: RAC-gamma
lang: en
text: protein kinase B, gamma
GeneType: Name: gene with protein product
Rare disease: CAMOS syndrome (Orphanet code 83472)
Associated genes:
Name: zinc finger protein 592
Symbol: ZNF592
Synonyms: lang: en
text: CAMOS
lang: en
text: KIAA0211
GeneType: Name: gene with protein product
Name: WD repeat domain 73
Symbol: WDR73
Synonyms: lang: en
text: FLJ14888
lang: en
text: HSPC264
GeneType: Name: gene with protein product
Rare disease: Microtia (Orphanet code 83463)
Associated genes:
Name: homeobox A2
Symbol: HOXA2
GeneType: Name: gene with protein product
Rare disease: Congenital primary aphakia (Orphanet code 83461)
Associated genes:
Name: forkhead box E3
Symbol: FOXE3
Synonyms: lang: en
text: FREAC8
GeneType: Name: gene with protein product
Rare disease: Glomuvenous malformation (Orphanet code 83454)
Associated genes:
Name: glomulin, FKBP associated protein
Symbol: GLMN
Synonyms: lang: en
text: FAP48
lang: en
text: FAP68
lang: en
text: FKBPAP
lang: en
text: GLML
lang: en
text: GVM
GeneType: Name: gene with protein product
Rare disease: Enteric anendocrinosis (Orphanet code 83620)
Associated genes:
Name: neurogenin 3
Symbol: NEUROG3
Synonyms: lang: en
text: Atoh5
lang: en
text: Math4B
lang: en
text: bHLHa7
lang: en
text: ngn3
GeneType: Name: gene with protein product
Rare disease: Senior-Boichis syndrome (Orphanet code 84081)
Associated genes:
Name: doublecortin domain containing 2
Symbol: DCDC2
Synonyms: lang: en
text: DCDC2A
lang: en
text: KIAA1154
lang: en
text: NPHP19
lang: en
text: RU2
lang: en
text: nephronophthisis 19
GeneType: Name: gene with protein product
Name: transmembrane protein 67
Symbol: TMEM67
Synonyms: lang: en
text: JBTS6
lang: en
text: MGC26979
lang: en
text: Meckelin
lang: en
text: NPHP11
GeneType: Name: gene with protein product
Rare disease: Fibronectin glomerulopathy (Orphanet code 84090)
Associated genes:
Name: fibronectin 1
Symbol: FN1
Synonyms: lang: en
text: CIG
lang: en
text: Cold-insoluble globulin
lang: en
text: FINC
lang: en
text: GFND2
lang: en
text: LETS
lang: en
text: MSF
lang: en
text: Migration-stimulating factor
lang: en
text: cold-insoluble globulin
lang: en
text: lnc-ABCA12-8
lang: en
text: migration-stimulating factor
GeneType: Name: gene with protein product
Rare disease: Syndromic diarrhea (Orphanet code 84064)
Associated genes:
Name: SKI3 subunit of superkiller complex
Symbol: SKIC3
Synonyms: lang: en
text: SKI complex component SKI3 (S. cerevisiae)
lang: en
text: SKI3
lang: en
text: THES
lang: en
text: thespin
GeneType: Name: gene with protein product
Name: SKI2 subunit of superkiller complex
Symbol: SKIC2
Synonyms: lang: en
text: 170A
lang: en
text: DDX13
lang: en
text: HLP
lang: en
text: SKI2
lang: en
text: SKI2W
lang: en
text: SKIV2L1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 78 (Orphanet code 513436)
Associated genes:
Name: ATPase cation transporting 13A2
Symbol: ATP13A2
Synonyms: lang: en
text: CLN12
lang: en
text: HSA9947
GeneType: Name: gene with protein product
Rare disease: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (Orphanet code 83639)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class M
Symbol: PIGM
Synonyms: lang: en
text: DPM:GlcN-(acyl-)PI mannosyltransferase
lang: en
text: GPI mannosyltransferase 1
lang: en
text: GPI-MT-I
lang: en
text: PIG-M
lang: en
text: dol-P-Man dependent GPI mannosyltransferase
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class W
Symbol: PIGW
Synonyms: lang: en
text: FLJ37433
lang: en
text: GPI-anchored wall protein transfer 1 homolog (S. cerevisiae)
lang: en
text: Gwt1
lang: en
text: PIG-W
GeneType: Name: gene with protein product
Rare disease: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome (Orphanet code 83629)
Associated genes:
Name: apoptosis inducing factor mitochondria associated 1
Symbol: AIFM1
Synonyms: lang: en
text: AIF
lang: en
text: CMTX4
lang: en
text: DFNX5
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome (Orphanet code 513456)
Associated genes:
Name: WD repeat domain 26
Symbol: WDR26
Synonyms: lang: en
text: FLJ21016
lang: en
text: GID complex subunit 7 homolog (S. cerevisiae)
lang: en
text: GID7
GeneType: Name: gene with protein product
Rare disease: Microcytic anemia with liver iron overload (Orphanet code 83642)
Associated genes:
Name: solute carrier family 11 member 2
Symbol: SLC11A2
Synonyms: lang: en
text: DCT1
lang: en
text: DMT-1
lang: en
text: DMT1
lang: en
text: FLJ37416
lang: en
text: Natural resistance-associated macrophage protein 2
lang: en
text: divalent cation transporter 1
lang: en
text: divalent metal transporter 1
GeneType: Name: gene with protein product
Rare disease: Hypomyelination-congenital cataract syndrome (Orphanet code 85163)
Associated genes:
Name: hyccin PI4KA lipid kinase complex subunit 1
Symbol: HYCC1
Synonyms: lang: en
text: DRCTNNB1A
lang: en
text: HCC
lang: en
text: HYCC1
lang: en
text: down regulated by Ctnnb1, a
lang: en
text: hyccin
GeneType: Name: gene with protein product
Rare disease: Camptodactyly-tall stature-scoliosis-hearing loss syndrome (Orphanet code 85164)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Rare disease: Neurogenic scapuloperoneal syndrome, Kaeser type (Orphanet code 85146)
Associated genes:
Name: desmin
Symbol: DES
Synonyms: lang: en
text: CMD1I
lang: en
text: CSM1
lang: en
text: CSM2
lang: en
text: LGMD2R
lang: en
text: cardiomyopathy, dilated 1I
lang: en
text: intermediate filament protein
GeneType: Name: gene with protein product
Rare disease: Bothnia retinal dystrophy (Orphanet code 85128)
Associated genes:
Name: retinaldehyde binding protein 1
Symbol: RLBP1
Synonyms: lang: en
text: CRALBP
GeneType: Name: gene with protein product
Rare disease: Cystic leukoencephalopathy without megalencephaly (Orphanet code 85136)
Associated genes:
Name: NADH:ubiquinone oxidoreductase subunit A2
Symbol: NDUFA2
Synonyms: lang: en
text: B8
lang: en
text: complex I B8 subunit
GeneType: Name: gene with protein product
Name: ribonuclease T2
Symbol: RNASET2
Synonyms: lang: en
text: FLJ10907
lang: en
text: RNASE6PL
lang: en
text: bA514O12.3
GeneType: Name: gene with protein product
Rare disease: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (Orphanet code 85112)
Associated genes:
Name: R-spondin 1
Symbol: RSPO1
Synonyms: lang: en
text: FLJ40906
lang: en
text: RSPONDIN
GeneType: Name: gene with protein product
Rare disease: Desmin-related myopathy with Mallory body-like inclusions (Orphanet code 84132)
Associated genes:
Name: selenoprotein N
Symbol: SELENON
Synonyms: lang: en
text: RSS
lang: en
text: SELN
GeneType: Name: gene with protein product
Rare disease: Endosteal sclerosis-cerebellar hypoplasia syndrome (Orphanet code 85186)
Associated genes:
Name: RNA polymerase III subunit B
Symbol: POLR3B
Synonyms: lang: en
text: C128
lang: en
text: FLJ10388
lang: en
text: RPC2
GeneType: Name: gene with protein product
Rare disease: Diaphyseal medullary stenosis-bone malignancy syndrome (Orphanet code 85182)
Associated genes:
Name: methylthioadenosine phosphorylase
Symbol: MTAP
Synonyms: lang: en
text: MSAP
lang: en
text: S-methyl-5'-thioadenosine phosphorylase
lang: en
text: c86fus
GeneType: Name: gene with protein product
Rare disease: Infantile osteopetrosis with neuroaxonal dysplasia (Orphanet code 85179)
Associated genes:
Name: osteoclastogenesis associated transmembrane protein 1
Symbol: OSTM1
Synonyms: lang: en
text: CLCN7 accessory beta subunit
lang: en
text: GL
lang: en
text: HSPC019
lang: en
text: grey-lethal
GeneType: Name: gene with protein product
Rare disease: IMAGe syndrome (Orphanet code 85173)
Associated genes:
Name: cyclin dependent kinase inhibitor 1C
Symbol: CDKN1C
Synonyms: lang: en
text: KIP2
lang: en
text: P57
GeneType: Name: gene with protein product
Name: DNA polymerase epsilon, catalytic subunit
Symbol: POLE
Synonyms: lang: en
text: DNA polymerase epsilon catalytic subunit A
lang: en
text: POLE1
GeneType: Name: gene with protein product
Rare disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet code 85172)
Associated genes:
Name: component of oligomeric golgi complex 4
Symbol: COG4
Synonyms: lang: en
text: COD1
lang: en
text: DKFZP586E1519
GeneType: Name: gene with protein product
Rare disease: Familial digital arthropathy-brachydactyly (Orphanet code 85169)
Associated genes:
Name: transient receptor potential cation channel subfamily V member 4
Symbol: TRPV4
Synonyms: lang: en
text: CMT2C
lang: en
text: OTRPC4
lang: en
text: TRP12
lang: en
text: VR-OAC
lang: en
text: VRL-2
lang: en
text: VROAC
lang: en
text: osmosensitive transient receptor potential channel 4
GeneType: Name: gene with protein product
Rare disease: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome (Orphanet code 85167)
Associated genes:
Name: phosphate cytidylyltransferase 1A, choline
Symbol: PCYT1A
Synonyms: lang: en
text: CCTalpha
lang: en
text: CT
lang: en
text: CTP:phosphocholine cytidylyltransferase-alpha
lang: en
text: CTPCT
lang: en
text: choline-phosphate cytidylyltransferase alpha
lang: en
text: phosphorylcholine transferase alpha
GeneType: Name: gene with protein product
Rare disease: Platyspondylic dysplasia, Torrance type (Orphanet code 85166)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome (Orphanet code 85165)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Rare disease: KLHL7-related Bohring-Opitz-like syndrome (Orphanet code 603689)
Associated genes:
Name: kelch like family member 7
Symbol: KLHL7
Synonyms: lang: en
text: KLHL6
lang: en
text: RP42
lang: en
text: SBBI26
lang: en
text: retinitis pigmentosa 42
GeneType: Name: gene with protein product
Rare disease: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome (Orphanet code 603684)
Associated genes:
Name: kelch like family member 7
Symbol: KLHL7
Synonyms: lang: en
text: KLHL6
lang: en
text: RP42
lang: en
text: SBBI26
lang: en
text: retinitis pigmentosa 42
GeneType: Name: gene with protein product
Rare disease: KLHL7-related Crisponi/cold-induced sweating-like syndrome (Orphanet code 603694)
Associated genes:
Name: kelch like family member 7
Symbol: KLHL7
Synonyms: lang: en
text: KLHL6
lang: en
text: RP42
lang: en
text: SBBI26
lang: en
text: retinitis pigmentosa 42
GeneType: Name: gene with protein product
Rare disease: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome (Orphanet code 610573)
Associated genes:
Name: chloride voltage-gated channel 6
Symbol: CLCN6
Synonyms: lang: en
text: CLC-6
lang: en
text: ClC-6
lang: en
text: KIAA0046
GeneType: Name: gene with protein product
Rare disease: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome (Orphanet code 610569)
Associated genes:
Name: bridge-like lipid transfer protein family member 1
Symbol: BLTP1
Synonyms: lang: en
text: FLJ21404
lang: en
text: FSA
lang: en
text: KIAA1371
lang: en
text: Tweek
lang: en
text: fragile site-associated
GeneType: Name: gene with protein product
Rare disease: Oculogastrointestinal-neurodevelopmental syndrome (Orphanet code 611201)
Associated genes:
Name: calpain 15
Symbol: CAPN15
GeneType: Name: gene with protein product
Rare disease: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome (Orphanet code 600668)
Associated genes:
Name: cyclin K
Symbol: CCNK
Synonyms: lang: en
text: CPR4
GeneType: Name: gene with protein product
Rare disease: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance (Orphanet code 600663)
Associated genes:
Name: neurexin 1
Symbol: NRXN1
Synonyms: lang: en
text: Hs.22998
lang: en
text: KIAA0578
GeneType: Name: gene with protein product
Rare disease: Rigid spine syndrome (Orphanet code 97244)
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
Name: selenoprotein N
Symbol: SELENON
Synonyms: lang: en
text: RSS
lang: en
text: SELN
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 3 (Orphanet code 97249)
Associated genes:
Name: piccolo presynaptic cytomatrix protein
Symbol: PCLO
Synonyms: lang: en
text: ACZ
lang: en
text: DKFZp779G1236
lang: en
text: KIAA0559
lang: en
text: aczonin
GeneType: Name: gene with protein product
Rare disease: Insulinoma (Orphanet code 97279)
Associated genes:
Name: YY1 transcription factor
Symbol: YY1
Synonyms: lang: en
text: DELTA
lang: en
text: INO80 complex subunit S
lang: en
text: INO80S
lang: en
text: NF-E1
lang: en
text: UCRBP
lang: en
text: YIN-YANG-1
lang: en
text: Yin and Yang 1 protein
GeneType: Name: gene with protein product
Name: menin 1
Symbol: MEN1
Synonyms: lang: en
text: menin
GeneType: Name: gene with protein product
Rare disease: Carney-Stratakis syndrome (Orphanet code 97286)
Associated genes:
Name: succinate dehydrogenase complex iron sulfur subunit B
Symbol: SDHB
Synonyms: lang: en
text: iron-sulfur subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] iron-sulfur subunit
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex subunit C
Symbol: SDHC
Synonyms: lang: en
text: CYB560
lang: en
text: cybL
lang: en
text: large subunit of cytochrome b
lang: en
text: succinate dehydrgenase cytochrome b
lang: en
text: succinate dehydrogenase cytochrome b560 subunit
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex subunit D
Symbol: SDHD
Synonyms: lang: en
text: cybS
lang: en
text: small subunit of cytochrome b
GeneType: Name: gene with protein product
Rare disease: Bohring-Opitz syndrome (Orphanet code 97297)
Associated genes:
Name: ASXL transcriptional regulator 1
Symbol: ASXL1
Synonyms: lang: en
text: KIAA0978
GeneType: Name: gene with protein product
Rare disease: Melanoma of soft tissue (Orphanet code 97338)
Associated genes:
Name: EWS RNA binding protein 1
Symbol: EWSR1
Synonyms: lang: en
text: EWS
GeneType: Name: gene with protein product
Name: activating transcription factor 1
Symbol: ATF1
Synonyms: lang: en
text: TREB36
GeneType: Name: gene with protein product
Name: cAMP responsive element binding protein 1
Symbol: CREB1
GeneType: Name: gene with protein product
Rare disease: ADan amyloidosis (Orphanet code 97346)
Associated genes:
Name: integral membrane protein 2B
Symbol: ITM2B
Synonyms: lang: en
text: BRI
lang: en
text: BRI2
lang: en
text: BRICD2B
lang: en
text: BRICHOS domain containing 2B
lang: en
text: E25B
lang: en
text: E3-16
GeneType: Name: gene with protein product
Rare disease: ABri amyloidosis (Orphanet code 97345)
Associated genes:
Name: integral membrane protein 2B
Symbol: ITM2B
Synonyms: lang: en
text: BRI
lang: en
text: BRI2
lang: en
text: BRICD2B
lang: en
text: BRICHOS domain containing 2B
lang: en
text: E25B
lang: en
text: E3-16
GeneType: Name: gene with protein product
Rare disease: Renal hypoplasia, bilateral (Orphanet code 97362)
Associated genes:
Name: paired box 2
Symbol: PAX2
Synonyms: lang: en
text: PAX-2
GeneType: Name: gene with protein product
Name: PBX homeobox 1
Symbol: PBX1
GeneType: Name: gene with protein product
Rare disease: Unilateral multicystic dysplastic kidney (Orphanet code 97363)
Associated genes:
Name: HNF1 homeobox B
Symbol: HNF1B
Synonyms: lang: en
text: HNF1beta
lang: en
text: HNF1ß
lang: en
text: LFB3
lang: en
text: MODY5
lang: en
text: VHNF1
lang: en
text: hepatocyte nuclear factor 1 beta
GeneType: Name: gene with protein product
Rare disease: Bilateral multicystic dysplastic kidney (Orphanet code 97364)
Associated genes:
Name: HNF1 homeobox B
Symbol: HNF1B
Synonyms: lang: en
text: HNF1beta
lang: en
text: HNF1ß
lang: en
text: LFB3
lang: en
text: MODY5
lang: en
text: VHNF1
lang: en
text: hepatocyte nuclear factor 1 beta
GeneType: Name: gene with protein product
Rare disease: Renal tubular dysgenesis of genetic origin (Orphanet code 97369)
Associated genes:
Name: angiotensin I converting enzyme
Symbol: ACE
Synonyms: lang: en
text: ACE1
lang: en
text: CD143
lang: en
text: peptidyl-dipeptidase A
GeneType: Name: gene with protein product
Name: angiotensinogen
Symbol: AGT
Synonyms: lang: en
text: alpha-1 antiproteinase, antitrypsin
GeneType: Name: gene with protein product
Name: renin
Symbol: REN
GeneType: Name: gene with protein product
Name: angiotensin II receptor type 1
Symbol: AGTR1
Synonyms: lang: en
text: AG2S
lang: en
text: AGTR1A
lang: en
text: AT1
lang: en
text: AT1B
lang: en
text: AT2R1
lang: en
text: AT2R1A
lang: en
text: AT2R1B
lang: en
text: ATR1
lang: en
text: HAT1R
lang: en
text: angiotensin II type 1 receptor
GeneType: Name: gene with protein product
Rare disease: Right sided atrial isomerism (Orphanet code 97548)
Associated genes:
Name: growth differentiation factor 1
Symbol: GDF1
GeneType: Name: gene with protein product
Rare disease: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 (Orphanet code 96182)
Associated genes:
Name: growth factor receptor bound protein 10
Symbol: GRB10
GeneType: Name: gene with protein product
Rare disease: Paternal uniparental disomy of chromosome 6 (Orphanet code 96191)
Associated genes:
Name: hydatidiform mole associated and imprinted
Symbol: HYMAI
Synonyms: lang: en
text: NCRNA00020
lang: en
text: non-protein coding RNA 20
GeneType: Name: Non-coding RNA
Name: PLAG1 like zinc finger 1
Symbol: PLAGL1
Synonyms: lang: en
text: LOT1
lang: en
text: ZAC
GeneType: Name: gene with protein product
Rare disease: Temple syndrome due to maternal uniparental disomy of chromosome 14 (Orphanet code 96184)
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: Cushing disease (Orphanet code 96253)
Associated genes:
Name: cadherin related 23
Symbol: CDH23
Synonyms: lang: en
text: CDHR23
lang: en
text: cadherin-related family member 23
GeneType: Name: gene with protein product
Name: ubiquitin specific peptidase 48
Symbol: USP48
Synonyms: lang: en
text: FLJ11328
lang: en
text: FLJ20103
lang: en
text: FLJ23054
lang: en
text: FLJ23277
lang: en
text: MGC14879
GeneType: Name: gene with protein product
Name: B-Raf proto-oncogene, serine/threonine kinase
Symbol: BRAF
Synonyms: lang: en
text: BRAF-1
lang: en
text: BRAF1
GeneType: Name: gene with protein product
Name: ubiquitin specific peptidase 8
Symbol: USP8
Synonyms: lang: en
text: HumORF8
lang: en
text: KIAA0055
lang: en
text: SPG59
lang: en
text: UBPY
lang: en
text: Ubiquitin carboxyl-terminal hydrolase 8
lang: en
text: Ubiquitin isopeptidase Y
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 3 group C member 1
Symbol: NR3C1
Synonyms: lang: en
text: GR
lang: en
text: glucocorticoid receptor
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: ATRX chromatin remodeler
Symbol: ATRX
Synonyms: lang: en
text: RAD54 homolog (S. cerevisiae)
lang: en
text: XH2
lang: en
text: XNP
GeneType: Name: gene with protein product
Rare disease: Leydig cell hypoplasia due to partial LH resistance (Orphanet code 96266)
Associated genes:
Name: luteinizing hormone/choriogonadotropin receptor
Symbol: LHCGR
Synonyms: lang: en
text: LCGR
lang: en
text: LGR2
lang: en
text: LHR
lang: en
text: ULG5
lang: en
text: luteinizing hormone receptor
GeneType: Name: gene with protein product
Rare disease: Leydig cell hypoplasia due to complete LH resistance (Orphanet code 96265)
Associated genes:
Name: luteinizing hormone/choriogonadotropin receptor
Symbol: LHCGR
Synonyms: lang: en
text: LCGR
lang: en
text: LGR2
lang: en
text: LHR
lang: en
text: ULG5
lang: en
text: luteinizing hormone receptor
GeneType: Name: gene with protein product