TaoMedAI/RareMedData huggingface dataset:
Rare disease: Tibial muscular dystrophy (Orphanet code 609)
Associated genes:
Name: titin
Symbol: TTN
Synonyms: lang: en
text: CMH9
lang: en
text: CMPD4
lang: en
text: FLJ32040
lang: en
text: LGMD2J
lang: en
text: MYLK5
lang: en
text: TMD
GeneType: Name: gene with protein product
Rare disease: GNE myopathy (Orphanet code 602)
Associated genes:
Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Symbol: GNE
Synonyms: lang: en
text: Uae1
lang: en
text: bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
GeneType: Name: gene with protein product
Rare disease: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome (Orphanet code 505242)
Associated genes:
Name: solute carrier family 30 member 9
Symbol: SLC30A9
Synonyms: lang: en
text: GAC63
lang: en
text: GRIP1-dependent nuclear receptor coactivator
lang: en
text: HUEL
lang: en
text: ZNT9
GeneType: Name: gene with protein product
Rare disease: MEPAN syndrome (Orphanet code 508093)
Associated genes:
Name: mitochondrial trans-2-enoyl-CoA reductase
Symbol: MECR
Synonyms: lang: en
text: CGI-63
lang: en
text: ETR1
lang: en
text: FASN2B
lang: en
text: NRBF1
lang: en
text: mitochondrial 2-enoyl thioester reductase
lang: en
text: nuclear receptor binding factor 1
GeneType: Name: gene with protein product
Rare disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome (Orphanet code 508533)
Associated genes:
Name: exostosin like glycosyltransferase 3
Symbol: EXTL3
Synonyms: lang: en
text: REG receptor
lang: en
text: REGR
lang: en
text: botv
lang: en
text: glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
GeneType: Name: gene with protein product
Rare disease: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (Orphanet code 508542)
Associated genes:
Name: Myb like, SWIRM and MPN domains 1
Symbol: MYSM1
Synonyms: lang: en
text: KIAA1915
GeneType: Name: gene with protein product
Rare disease: Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome (Orphanet code 508512)
Associated genes:
Name: RecQ mediated genome instability 2
Symbol: RMI2
Synonyms: lang: en
text: BLAP18
lang: en
text: MGC24665
GeneType: Name: gene with protein product
Name: DNA topoisomerase III alpha
Symbol: TOP3A
Synonyms: lang: en
text: ZGRF7
lang: en
text: zinc finger, GRF-type containing 7
GeneType: Name: gene with protein product
Rare disease: Intermediate epidermolysis bullosa simplex with cardiomyopathy (Orphanet code 508529)
Associated genes:
Name: kelch like family member 24
Symbol: KLHL24
Synonyms: lang: en
text: DRE1
lang: en
text: FLJ20059
lang: en
text: KRIP6
GeneType: Name: gene with protein product
Rare disease: Hyperphenylalaninemia due to DNAJC12 deficiency (Orphanet code 508523)
Associated genes:
Name: DnaJ heat shock protein family (Hsp40) member C12
Symbol: DNAJC12
Synonyms: lang: en
text: J domain protein 1
lang: en
text: JDP1
GeneType: Name: gene with protein product
Rare disease: 8q24.3 microdeletion syndrome (Orphanet code 508488)
Associated genes:
Name: poly(U) binding splicing factor 60
Symbol: PUF60
Synonyms: lang: en
text: FBP interacting repressor
lang: en
text: FIR
lang: en
text: Ro ribonucleoprotein binding protein 1
lang: en
text: RoBPI
lang: en
text: SIAHBP1
lang: en
text: pyrimidine tract binding splicing factor
lang: en
text: siah binding protein 1
GeneType: Name: gene with protein product
Rare disease: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome (Orphanet code 508476)
Associated genes:
Name: hyaluronidase 2
Symbol: HYAL2
Synonyms: lang: en
text: LUCA2
lang: en
text: LuCa-2
lang: en
text: PH-20 homolog
lang: en
text: lysosomal hyaluronidase
GeneType: Name: gene with protein product
Rare disease: Oral-facial-digital syndrome with short stature and brachymesophalangy (Orphanet code 508501)
Associated genes:
Name: intraflagellar transport 57
Symbol: IFT57
Synonyms: lang: en
text: FLJ10147
lang: en
text: HIPPI
lang: en
text: MHS4R2
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome (Orphanet code 508498)
Associated genes:
Name: poly(U) binding splicing factor 60
Symbol: PUF60
Synonyms: lang: en
text: FBP interacting repressor
lang: en
text: FIR
lang: en
text: Ro ribonucleoprotein binding protein 1
lang: en
text: RoBPI
lang: en
text: SIAHBP1
lang: en
text: pyrimidine tract binding splicing factor
lang: en
text: siah binding protein 1
GeneType: Name: gene with protein product
Rare disease: CDKL5-deficiency disorder (Orphanet code 505652)
Associated genes:
Name: cyclin dependent kinase like 5
Symbol: CDKL5
Synonyms: lang: en
text: CFAP247
lang: en
text: EIEE2
GeneType: Name: gene with protein product
Rare disease: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (Orphanet code 506334)
Associated genes:
Name: sphingosine-1-phosphate lyase 1
Symbol: SGPL1
Synonyms: lang: en
text: SPL
GeneType: Name: gene with protein product
Rare disease: Stromme syndrome (Orphanet code 506307)
Associated genes:
Name: centromere protein F
Symbol: CENPF
Synonyms: lang: en
text: hcp-1
lang: en
text: mitosin
GeneType: Name: gene with protein product
Rare disease: Gabriele-de Vries syndrome (Orphanet code 506358)
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
Rare disease: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (Orphanet code 506353)
Associated genes:
Name: selenoprotein I
Symbol: SELENOI
Synonyms: lang: en
text: KIAA1724
lang: en
text: SELI
lang: en
text: SEPI
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 2T (Orphanet code 495274)
Associated genes:
Name: membrane metalloendopeptidase
Symbol: MME
Synonyms: lang: en
text: CALLA
lang: en
text: CD10
lang: en
text: NEP
lang: en
text: enkephalinase
lang: en
text: neprilysin
lang: en
text: neutral endopeptidase
GeneType: Name: gene with protein product
Rare disease: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (Orphanet code 495844)
Associated genes:
Name: heat shock protein nuclear import factor hikeshi
Symbol: HIKESHI
Synonyms: lang: en
text: HSPC138
lang: en
text: HSPC179
lang: en
text: OPI10
GeneType: Name: gene with protein product
Rare disease: 9q33.3q34.11 microdeletion syndrome (Orphanet code 495818)
Associated genes:
Name: LIM homeobox transcription factor 1 beta
Symbol: LMX1B
GeneType: Name: gene with protein product
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: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (Orphanet code 495875)
Associated genes:
Name: mab-21 like 1
Symbol: MAB21L1
GeneType: Name: gene with protein product
Rare disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (Orphanet code 496641)
Associated genes:
Name: tubulin folding cofactor D
Symbol: TBCD
GeneType: Name: gene with protein product
Rare disease: Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome (Orphanet code 496686)
Associated genes:
Name: kyphoscoliosis peptidase
Symbol: KY
Synonyms: lang: en
text: FLJ33207
GeneType: Name: gene with protein product
Rare disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome (Orphanet code 496689)
Associated genes:
Name: kyphoscoliosis peptidase
Symbol: KY
Synonyms: lang: en
text: FLJ33207
GeneType: Name: gene with protein product
Rare disease: EVEN-plus syndrome (Orphanet code 496751)
Associated genes:
Name: heat shock protein family A (Hsp70) member 9
Symbol: HSPA9
Synonyms: lang: en
text: 75 kDa glucose-regulated protein
lang: en
text: GRP75
lang: en
text: PBP74
lang: en
text: Stress-70 protein, mitochondrial
lang: en
text: mortalin
lang: en
text: mortalin2
lang: en
text: mot-2
lang: en
text: mthsp75
GeneType: Name: gene with protein product
Rare disease: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (Orphanet code 496756)
Associated genes:
Name: tubulin folding cofactor E
Symbol: TBCE
Synonyms: lang: en
text: KCS1
lang: en
text: pac2
GeneType: Name: gene with protein product
Rare disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome (Orphanet code 496790)
Associated genes:
Name: ATPase family AAA domain containing 3A
Symbol: ATAD3A
Synonyms: lang: en
text: FLJ10709
GeneType: Name: gene with protein product
Rare disease: MIRAGE syndrome (Orphanet code 494433)
Associated genes:
Name: sterile alpha motif domain containing 9
Symbol: SAMD9
Synonyms: lang: en
text: FLJ20073
lang: en
text: KIAA2004
GeneType: Name: gene with protein product
Rare disease: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome (Orphanet code 494439)
Associated genes:
Name: exosome component 2
Symbol: EXOSC2
Synonyms: lang: en
text: RRP4
lang: en
text: Rrp4p
lang: en
text: hRrp4p
lang: en
text: homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)
lang: en
text: p7
GeneType: Name: gene with protein product
Rare disease: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (Orphanet code 494444)
Associated genes:
Name: diaphanous related formin 1
Symbol: DIAPH1
Synonyms: lang: en
text: LFHL1
lang: en
text: hDIA1
lang: en
text: mDia1
lang: en
text: mammalian diaphanous related formin 1
GeneType: Name: gene with protein product
Rare disease: RERE-related neurodevelopmental syndrome (Orphanet code 494344)
Associated genes:
Name: arginine-glutamic acid dipeptide repeats
Symbol: RERE
Synonyms: lang: en
text: ARG
lang: en
text: ARP
lang: en
text: ATN2
lang: en
text: DNB1
lang: en
text: KIAA0458
lang: en
text: atrophin 2
GeneType: Name: gene with protein product
Rare disease: Squamous cell carcinoma of the hypopharynx (Orphanet code 494547)
Associated genes:
Name: TNF receptor superfamily member 10b
Symbol: TNFRSF10B
Synonyms: lang: en
text: CD262
lang: en
text: DR5
lang: en
text: KILLER
lang: en
text: TRAIL-R2
lang: en
text: TRAILR2
lang: en
text: TRICK2A
lang: en
text: TRICKB
GeneType: Name: gene with protein product
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: inhibitor of growth family member 1
Symbol: ING1
Synonyms: lang: en
text: growth inhibitor ING1
lang: en
text: growth inhibitory protein ING1
lang: en
text: inhibitor of growth 1
lang: en
text: p24ING1c
lang: en
text: p33
lang: en
text: p33ING1
lang: en
text: p33ING1b
lang: en
text: p47
lang: en
text: p47ING1a
lang: en
text: tumor suppressor ING1
GeneType: Name: gene with protein product
Rare disease: Childhood-onset benign chorea with striatal involvement (Orphanet code 494541)
Associated genes:
Name: phosphodiesterase 10A
Symbol: PDE10A
Synonyms: lang: en
text: cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
GeneType: Name: gene with protein product
Rare disease: Infantile-onset generalized dyskinesia with orofacial involvement (Orphanet code 494526)
Associated genes:
Name: phosphodiesterase 10A
Symbol: PDE10A
Synonyms: lang: en
text: cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
GeneType: Name: gene with protein product
Rare disease: Squamous cell carcinoma of the larynx (Orphanet code 494550)
Associated genes:
Name: TNF receptor superfamily member 10b
Symbol: TNFRSF10B
Synonyms: lang: en
text: CD262
lang: en
text: DR5
lang: en
text: KILLER
lang: en
text: TRAIL-R2
lang: en
text: TRAILR2
lang: en
text: TRICK2A
lang: en
text: TRICKB
GeneType: Name: gene with protein product
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: inhibitor of growth family member 1
Symbol: ING1
Synonyms: lang: en
text: growth inhibitor ING1
lang: en
text: growth inhibitory protein ING1
lang: en
text: inhibitor of growth 1
lang: en
text: p24ING1c
lang: en
text: p33
lang: en
text: p33ING1
lang: en
text: p33ING1b
lang: en
text: p47
lang: en
text: p47ING1a
lang: en
text: tumor suppressor ING1
GeneType: Name: gene with protein product
Rare disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (Orphanet code 500180)
Associated genes:
Name: upstream binding transcription factor
Symbol: UBTF
Synonyms: lang: en
text: NOR-90
lang: en
text: UBF
lang: en
text: UBF1
lang: en
text: UBF2
GeneType: Name: gene with protein product
Rare disease: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome (Orphanet code 500188)
Associated genes:
Name: G protein-coupled receptor associated sorting protein 2
Symbol: GPRASP2
Synonyms: lang: en
text: FLJ37327
lang: en
text: GASP2
GeneType: Name: gene with protein product
Rare disease: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome (Orphanet code 500150)
Associated genes:
Name: SON DNA and RNA binding protein
Symbol: SON
Synonyms: lang: en
text: BASS1
lang: en
text: Bax antagonist selected in Saccharomyces 1
lang: en
text: DBP-5
lang: en
text: FLJ21099
lang: en
text: FLJ33914
lang: en
text: KIAA1019
lang: en
text: NRE-binding protein
lang: en
text: NREBP
lang: en
text: negative regulatory element-binding protein
GeneType: Name: gene with protein product
Rare disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (Orphanet code 500159)
Associated genes:
Name: Rac family small GTPase 1
Symbol: RAC1
Synonyms: lang: en
text: Rac-1
lang: en
text: TC-25
lang: en
text: p21-Rac1
GeneType: Name: gene with protein product
Rare disease: Inherited epidermodysplasia verruciformis (Orphanet code 302)
Associated genes:
Name: transmembrane channel like 6
Symbol: TMC6
Synonyms: lang: en
text: EVIN1
lang: en
text: LAK-4P
GeneType: Name: gene with protein product
Name: transmembrane channel like 8
Symbol: TMC8
Synonyms: lang: en
text: EVIN2
GeneType: Name: gene with protein product
Name: interleukin 7
Symbol: IL7
Synonyms: lang: en
text: IL-7
GeneType: Name: gene with protein product
Name: calcium and integrin binding 1
Symbol: CIB1
Synonyms: lang: en
text: CIB
lang: en
text: KIP
lang: en
text: SIP2-28
lang: en
text: calmyrin
GeneType: Name: gene with protein product
Rare disease: SIN3-related intellectual disability syndrome due to a point mutation (Orphanet code 500166)
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
Name: SIN3 transcription regulator family member B
Symbol: SIN3B
Synonyms: lang: en
text: KIAA0700
lang: en
text: Paired amphipathic helix protein Sin3b
GeneType: Name: gene with protein product
Rare disease: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome (Orphanet code 500135)
Associated genes:
Name: centrosomal protein 55
Symbol: CEP55
Synonyms: lang: en
text: CT111
lang: en
text: FLJ10540
lang: en
text: cancer/testis antigen 111
GeneType: Name: gene with protein product
Rare disease: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome (Orphanet code 500144)
Associated genes:
Name: trafficking protein particle complex subunit 12
Symbol: TRAPPC12
Synonyms: lang: en
text: CGI-87
lang: en
text: TTC-15
GeneType: Name: gene with protein product
Rare disease: Hao-Fountain syndrome due to 16p13.2 microdeletion (Orphanet code 500055)
Associated genes:
Name: ubiquitin specific peptidase 7
Symbol: USP7
GeneType: Name: gene with protein product
Rare disease: Tall stature-intellectual disability-renal anomalies syndrome (Orphanet code 500095)
Associated genes:
Name: FGF1 intracellular binding protein
Symbol: FIBP
Synonyms: lang: en
text: FGFIBP
GeneType: Name: gene with protein product
Rare disease: Infantile-onset periodic fever-panniculitis-dermatosis syndrome (Orphanet code 500062)
Associated genes:
Name: OTU deubiquitinase with linear linkage specificity
Symbol: OTULIN
Synonyms: lang: en
text: FLJ34884
lang: en
text: gumby
lang: en
text: ubiquitin thioesterase otulin
GeneType: Name: gene with protein product
Rare disease: Björnstad syndrome (Orphanet code 123)
Associated genes:
Name: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Symbol: BCS1L
Synonyms: lang: en
text: BCS
lang: en
text: BJS
lang: en
text: Bjornstad syndrome
lang: en
text: GRACILE syndrome
lang: en
text: Hs.6719
lang: en
text: h-BCS
GeneType: Name: gene with protein product
Rare disease: Wagner disease (Orphanet code 898)
Associated genes:
Name: versican
Symbol: VCAN
Synonyms: lang: en
text: PG-M
lang: en
text: versican proteoglycan
GeneType: Name: gene with protein product
Rare disease: Squamous cell carcinoma of the oropharynx (Orphanet code 500478)
Associated genes:
Name: TNF receptor superfamily member 10b
Symbol: TNFRSF10B
Synonyms: lang: en
text: CD262
lang: en
text: DR5
lang: en
text: KILLER
lang: en
text: TRAIL-R2
lang: en
text: TRAILR2
lang: en
text: TRICK2A
lang: en
text: TRICKB
GeneType: Name: gene with protein product
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: inhibitor of growth family member 1
Symbol: ING1
Synonyms: lang: en
text: growth inhibitor ING1
lang: en
text: growth inhibitory protein ING1
lang: en
text: inhibitor of growth 1
lang: en
text: p24ING1c
lang: en
text: p33
lang: en
text: p33ING1
lang: en
text: p33ING1b
lang: en
text: p47
lang: en
text: p47ING1a
lang: en
text: tumor suppressor ING1
GeneType: Name: gene with protein product
Rare disease: Squamous cell carcinoma of salivary glands (Orphanet code 500481)
Associated genes:
Name: protein kinase D1
Symbol: PRKD1
Synonyms: lang: en
text: PKC-mu
lang: en
text: PKCM
lang: en
text: PKD
GeneType: Name: gene with protein product
Name: TNF receptor superfamily member 10b
Symbol: TNFRSF10B
Synonyms: lang: en
text: CD262
lang: en
text: DR5
lang: en
text: KILLER
lang: en
text: TRAIL-R2
lang: en
text: TRAILR2
lang: en
text: TRICK2A
lang: en
text: TRICKB
GeneType: Name: gene with protein product
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: inhibitor of growth family member 1
Symbol: ING1
Synonyms: lang: en
text: growth inhibitor ING1
lang: en
text: growth inhibitory protein ING1
lang: en
text: inhibitor of growth 1
lang: en
text: p24ING1c
lang: en
text: p33
lang: en
text: p33ING1
lang: en
text: p33ING1b
lang: en
text: p47
lang: en
text: p47ING1a
lang: en
text: tumor suppressor ING1
GeneType: Name: gene with protein product
Rare disease: Graham Little-Piccardi-Lassueur syndrome (Orphanet code 505)
Associated genes:
Name: major histocompatibility complex, class II, DR alpha
Symbol: HLA-DRA
GeneType: Name: gene with protein product
Rare disease: Woolly hair (Orphanet code 170)
Associated genes:
Name: lysophosphatidic acid receptor 6
Symbol: LPAR6
Synonyms: lang: en
text: P2Y5
GeneType: Name: gene with protein product
Name: lipase H
Symbol: LIPH
Synonyms: lang: en
text: LPDLR
lang: en
text: PLA1B
lang: en
text: mPA-PLA1
lang: en
text: mPA-PLA1alpha
lang: en
text: phospholipase A(1)
GeneType: Name: gene with protein product
Name: keratin 74
Symbol: KRT74
Synonyms: lang: en
text: K6IRS4
lang: en
text: KRT5C
lang: en
text: KRT6IRS4
GeneType: Name: gene with protein product
Name: keratin 71
Symbol: KRT71
Synonyms: lang: en
text: K6IRS1
lang: en
text: KRT6IRS
lang: en
text: KRT6IRS1
GeneType: Name: gene with protein product
Name: keratin 25
Symbol: KRT25
GeneType: Name: gene with protein product
Rare disease: Osteosclerotic metaphyseal dysplasia (Orphanet code 500548)
Associated genes:
Name: leucine rich repeat kinase 1
Symbol: LRRK1
Synonyms: lang: en
text: FLJ23119
lang: en
text: KIAA1790
lang: en
text: RIPK6
lang: en
text: ROCO1
lang: en
text: Roco1
GeneType: Name: gene with protein product
Rare disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome (Orphanet code 500533)
Associated genes:
Name: STE20 related adaptor alpha
Symbol: STRADA
Synonyms: lang: en
text: LYK5
lang: en
text: NY-BR-96
lang: en
text: STE20-like pseudokinase
lang: en
text: STRAD
lang: en
text: Stlk
GeneType: Name: gene with protein product
Rare disease: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract (Orphanet code 500545)
Associated genes:
Name: nucleus accumbens associated 1
Symbol: NACC1
Synonyms: lang: en
text: BEN domain containing 8
lang: en
text: BEND8
lang: en
text: BTBD30
lang: en
text: NAC-1
lang: en
text: NAC1
GeneType: Name: gene with protein product
Rare disease: Squamous cell carcinoma of the nasal cavity and paranasal sinuses (Orphanet code 500464)
Associated genes:
Name: TNF receptor superfamily member 10b
Symbol: TNFRSF10B
Synonyms: lang: en
text: CD262
lang: en
text: DR5
lang: en
text: KILLER
lang: en
text: TRAIL-R2
lang: en
text: TRAILR2
lang: en
text: TRICK2A
lang: en
text: TRICKB
GeneType: Name: gene with protein product
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Name: inhibitor of growth family member 1
Symbol: ING1
Synonyms: lang: en
text: growth inhibitor ING1
lang: en
text: growth inhibitory protein ING1
lang: en
text: inhibitor of growth 1
lang: en
text: p24ING1c
lang: en
text: p33
lang: en
text: p33ING1
lang: en
text: p33ING1b
lang: en
text: p47
lang: en
text: p47ING1a
lang: en
text: tumor suppressor ING1
GeneType: Name: gene with protein product