TaoMedAI/RareMedData huggingface dataset:
Rare disease: Complete hydatidiform mole (Orphanet code 254688)
Associated genes:
Name: NLR family pyrin domain containing 7
Symbol: NLRP7
Synonyms: lang: en
text: CLR19.4
lang: en
text: NOD12
lang: en
text: PAN7
lang: en
text: PYPAF3
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7
GeneType: Name: gene with protein product
Name: KH domain containing 3 like, subcortical maternal complex member
Symbol: KHDC3L
Synonyms: lang: en
text: ECAT1
lang: en
text: ES cell associated transcript 1
GeneType: Name: gene with protein product
Name: meiotic double-stranded break formation protein 1
Symbol: MEI1
Synonyms: lang: en
text: MGC40042
lang: en
text: SPATA38
lang: en
text: spermatogenesis associated 38
GeneType: Name: gene with protein product
Name: TOP6B like initiator of meiotic double strand breaks
Symbol: TOP6BL
Synonyms: lang: en
text: FLJ22531
lang: en
text: TOPOVIBL
GeneType: Name: gene with protein product
Rare disease: Syndactyly type 8 (Orphanet code 2498)
Associated genes:
Name: fibroblast growth factor 16
Symbol: FGF16
GeneType: Name: gene with protein product
Rare disease: Metachondromatosis (Orphanet code 2499)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 11
Symbol: PTPN11
Synonyms: lang: en
text: BPTP3
lang: en
text: PTP2C
lang: en
text: SH-PTP2
lang: en
text: SH2 domain-containing protein tyrosine phosphatase 2
lang: en
text: SHP-2
lang: en
text: SHP2
GeneType: Name: gene with protein product
Rare disease: Acrogeria (Orphanet code 2500)
Associated genes:
Name: collagen type III alpha 1 chain
Symbol: COL3A1
GeneType: Name: gene with protein product
Rare disease: Metaphyseal chondrodysplasia, Spahr type (Orphanet code 2501)
Associated genes:
Name: matrix metallopeptidase 13
Symbol: MMP13
Synonyms: lang: en
text: CLG3
lang: en
text: collagenase 3
GeneType: Name: gene with protein product
Rare disease: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome (Orphanet code 2504)
Associated genes:
Name: RUNX family transcription factor 2
Symbol: RUNX2
Synonyms: lang: en
text: AML3
lang: en
text: PEBP2A1
lang: en
text: PEBP2aA1
GeneType: Name: gene with protein product
Rare disease: Multiple benign circumferential skin creases on limbs (Orphanet code 2505)
Associated genes:
Name: microtubule associated protein RP/EB family member 2
Symbol: MAPRE2
Synonyms: lang: en
text: APC-binding protein EB1
lang: en
text: EB1
lang: en
text: EB2
lang: en
text: RP1
GeneType: Name: gene with protein product
Name: tubulin beta class I
Symbol: TUBB
Synonyms: lang: en
text: M40
lang: en
text: MGC16435
lang: en
text: OK/SW-cl.56
lang: en
text: Tubb5
lang: en
text: beta1-tubulin
lang: en
text: class I beta-tubulin
GeneType: Name: gene with protein product
Rare disease: Micro syndrome (Orphanet code 2510)
Associated genes:
Name: RAB3 GTPase activating protein catalytic subunit 1
Symbol: RAB3GAP1
Synonyms: lang: en
text: KIAA0066
lang: en
text: RAB3GAP
lang: en
text: RAB3GAP130
lang: en
text: WARBM1
GeneType: Name: gene with protein product
Name: RAB3 GTPase activating non-catalytic protein subunit 2
Symbol: RAB3GAP2
Synonyms: lang: en
text: DKFZP434D245
lang: en
text: KIAA0839
lang: en
text: RAB3-GAP150
lang: en
text: SPG69
GeneType: Name: gene with protein product
Name: RAB18, member RAS oncogene family
Symbol: RAB18
GeneType: Name: gene with protein product
Name: TBC1 domain family member 20
Symbol: TBC1D20
Synonyms: lang: en
text: dJ852M4.2
GeneType: Name: gene with protein product
Rare disease: Corpus callosum agenesis-abnormal genitalia syndrome (Orphanet code 2508)
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: Autosomal dominant primary microcephaly (Orphanet code 2514)
Associated genes:
Name: dipeptidyl peptidase like 6
Symbol: DPP6
Synonyms: lang: en
text: DPL1
lang: en
text: DPPX
GeneType: Name: gene with protein product
Name: lamin B1
Symbol: LMNB1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive chorioretinopathy-microcephaly syndrome (Orphanet code 2518)
Associated genes:
Name: polo like kinase 4
Symbol: PLK4
Synonyms: lang: en
text: Sak
GeneType: Name: gene with protein product
Name: tubulin gamma complex component 6
Symbol: TUBGCP6
Synonyms: lang: en
text: DJ402G11.6
lang: en
text: GCP6
lang: en
text: Gamma-tubulin complex component 6
lang: en
text: KIAA1669
lang: en
text: gamma-tubulin complex component 6
GeneType: Name: gene with protein product
Name: tubulin gamma complex component 4
Symbol: TUBGCP4
Synonyms: lang: en
text: 76P
lang: en
text: FLJ14797
lang: en
text: GCP4
lang: en
text: gamma-ring complex protein 76 kDa
lang: en
text: gamma-tubulin complex protein 4
GeneType: Name: gene with protein product
Rare disease: Pontocerebellar hypoplasia type 2 (Orphanet code 2524)
Associated genes:
Name: tRNA splicing endonuclease subunit 15
Symbol: TSEN15
GeneType: Name: gene with protein product
Name: tRNA splicing endonuclease subunit 54
Symbol: TSEN54
Synonyms: lang: en
text: SEN54
lang: en
text: SEN54L
GeneType: Name: gene with protein product
Name: tRNA splicing endonuclease subunit 34
Symbol: TSEN34
Synonyms: lang: en
text: SEN34
lang: en
text: SEN34L
GeneType: Name: gene with protein product
Name: tRNA splicing endonuclease subunit 2
Symbol: TSEN2
Synonyms: lang: en
text: MGC2776
lang: en
text: SEN2
lang: en
text: SEN2L
GeneType: Name: gene with protein product
Name: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Symbol: SEPSECS
Synonyms: lang: en
text: O-phosphoseryl-tRNA(Sec) selenium transferase
lang: en
text: SLA
lang: en
text: SLA-p35
lang: en
text: SLA/LP
lang: en
text: SecS
lang: en
text: soluble liver antigen/liver pancreas antigen
GeneType: Name: gene with protein product
Rare disease: Microcephaly-lymphedema-chorioretinopathy syndrome (Orphanet code 2526)
Associated genes:
Name: kinesin family member 11
Symbol: KIF11
Synonyms: lang: en
text: Eg5
lang: en
text: HKSP
lang: en
text: TRIP5
GeneType: Name: gene with protein product
Rare disease: Ear-patella-short stature syndrome (Orphanet code 2554)
Associated genes:
Name: origin recognition complex subunit 4
Symbol: ORC4
Synonyms: lang: en
text: HsORC4
lang: en
text: Orc4p
GeneType: Name: gene with protein product
Name: origin recognition complex subunit 6
Symbol: ORC6
GeneType: Name: gene with protein product
Name: chromatin licensing and DNA replication factor 1
Symbol: CDT1
Synonyms: lang: en
text: DUP
lang: en
text: RIS2
GeneType: Name: gene with protein product
Name: cell division cycle 6
Symbol: CDC6
GeneType: Name: gene with protein product
Name: origin recognition complex subunit 1
Symbol: ORC1
Synonyms: lang: en
text: HSORC1
lang: en
text: PARC1
lang: en
text: origin recognition complex 1
lang: en
text: origin recognition complex, subunit 1, S. cerevisiae, homolog-like
lang: en
text: replication control protein 1
GeneType: Name: gene with protein product
Name: geminin DNA replication inhibitor
Symbol: GMNN
Synonyms: lang: en
text: Gem
GeneType: Name: gene with protein product
Name: cell division cycle 45
Symbol: CDC45
Synonyms: lang: en
text: human CDC45
GeneType: Name: gene with protein product
Rare disease: Microphthalmia with linear skin defects syndrome (Orphanet code 2556)
Associated genes:
Name: holocytochrome c synthase
Symbol: HCCS
Synonyms: lang: en
text: CCHL
lang: en
text: cytochrome c heme-lyase
lang: en
text: holocytochrome-c synthetase
GeneType: Name: gene with protein product
Name: cytochrome c oxidase subunit 7B
Symbol: COX7B
GeneType: Name: gene with protein product
Name: NADH:ubiquinone oxidoreductase subunit B11
Symbol: NDUFB11
Synonyms: lang: en
text: ESSS
lang: en
text: NP17.3
lang: en
text: Np15
lang: en
text: complex I NP17.3 subunit
GeneType: Name: gene with protein product
Rare disease: Muckle-Wells syndrome (Orphanet code 575)
Associated genes:
Name: NLR family pyrin domain containing 3
Symbol: NLRP3
Synonyms: lang: en
text: AGTAVPRL
lang: en
text: AII
lang: en
text: AVP
lang: en
text: CLR1.1
lang: en
text: Cryopyrin
lang: en
text: FCAS
lang: en
text: FCU
lang: en
text: MWS
lang: en
text: NALP3
lang: en
text: PYPAF1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
GeneType: Name: gene with protein product
Rare disease: Moyamoya disease (Orphanet code 2573)
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
Name: actin alpha 2, smooth muscle
Symbol: ACTA2
Synonyms: lang: en
text: ACTSA
GeneType: Name: gene with protein product
Name: ring finger protein 213
Symbol: RNF213
Synonyms: lang: en
text: ALK lymphoma oligomerization partner on chromosome 17
lang: en
text: ALO17
lang: en
text: KIAA1554
lang: en
text: NET57
lang: en
text: mysterin
GeneType: Name: gene with protein product
Rare disease: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (Orphanet code 2570)
Associated genes:
Name: G-patch domain and KOW motifs
Symbol: GPKOW
Synonyms: lang: en
text: G patch domain containing 5
lang: en
text: GPATC5
lang: en
text: GPATCH5
lang: en
text: Mos2
lang: en
text: Spp2
lang: en
text: T54
GeneType: Name: gene with protein product
Rare disease: 15q11.2 microdeletion syndrome (Orphanet code 261183)
Associated genes:
Name: NIPA magnesium transporter 1
Symbol: NIPA1
Synonyms: lang: en
text: MGC35570
lang: en
text: SLC57A1
GeneType: Name: gene with protein product
Name: NIPA magnesium transporter 2
Symbol: NIPA2
Synonyms: lang: en
text: SLC57A2
GeneType: Name: gene with protein product
Name: tubulin gamma 1
Symbol: TUBG1
Synonyms: lang: en
text: TUBGCP1
GeneType: Name: gene with protein product
Rare disease: Ataxia-pancytopenia syndrome (Orphanet code 2585)
Associated genes:
Name: sterile alpha motif domain containing 9 like
Symbol: SAMD9L
Synonyms: lang: en
text: FLJ39885
lang: en
text: KIAA2005
GeneType: Name: gene with protein product
Rare disease: FOXG1 syndrome due to 14q12 microdeletion (Orphanet code 261144)
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: Mayer-Rokitansky-Küster-Hauser syndrome type 2 (Orphanet code 2578)
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
Name: Wnt family member 4
Symbol: WNT4
Synonyms: lang: en
text: WNT-4
GeneType: Name: gene with protein product
Rare disease: Mulibrey nanism (Orphanet code 2576)
Associated genes:
Name: tripartite motif containing 37
Symbol: TRIM37
Synonyms: lang: en
text: E3 ubiquitin-protein ligase TRIM37
lang: en
text: KIAA0898
lang: en
text: POB1
lang: en
text: RING-B-box-coiled-coil protein
lang: en
text: TEF3
GeneType: Name: gene with protein product
Rare disease: Distal 16p11.2 microdeletion syndrome (Orphanet code 261222)
Associated genes:
Name: SH2B adaptor protein 1
Symbol: SH2B1
Synonyms: lang: en
text: FLJ30542
lang: en
text: SH2-B homolog
lang: en
text: SH2B
GeneType: Name: gene with protein product
Rare disease: Carney complex (Orphanet code 1359)
Associated genes:
Name: protein kinase cAMP-dependent type I regulatory subunit alpha
Symbol: PRKAR1A
Synonyms: lang: en
text: CNC1
lang: en
text: Carney complex type 1
GeneType: Name: gene with protein product
Name: phosphodiesterase 11A
Symbol: PDE11A
Synonyms: lang: en
text: Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A
GeneType: Name: gene with protein product
Rare disease: Tubular aggregate myopathy (Orphanet code 2593)
Associated genes:
Name: ORAI calcium release-activated calcium modulator 1
Symbol: ORAI1
Synonyms: lang: en
text: CRACM1
lang: en
text: FLJ14466
lang: en
text: calcium release-activated calcium modulator 1
GeneType: Name: gene with protein product
Name: stromal interaction molecule 1
Symbol: STIM1
Synonyms: lang: en
text: D11S4896E
lang: en
text: GOK
GeneType: Name: gene with protein product
Name: calsequestrin 1
Symbol: CASQ1
Synonyms: lang: en
text: CSQ1
lang: en
text: PDIB1
lang: en
text: calmitine
lang: en
text: calsequestrin 1, fast-twitch, skeletal muscle
GeneType: Name: gene with protein product
Rare disease: 14q11.2 microduplication syndrome (Orphanet code 261229)
Associated genes:
Name: chromodomain helicase DNA binding protein 8
Symbol: CHD8
Synonyms: lang: en
text: DUPLIN
lang: en
text: KIAA1564
GeneType: Name: gene with protein product
Name: SPT16 homolog, facilitates chromatin remodeling subunit
Symbol: SUPT16H
Synonyms: lang: en
text: CDC68
lang: en
text: FACT
lang: en
text: FACTP140
lang: en
text: FLJ10857
lang: en
text: FLJ14010
lang: en
text: SPT16/CDC68
lang: en
text: facilitates chromatin remodeling 140 kDa subunit
GeneType: Name: gene with protein product
Rare disease: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome (Orphanet code 2590)
Associated genes:
Name: N-acylsphingosine amidohydrolase 1
Symbol: ASAH1
Synonyms: lang: en
text: AC
lang: en
text: ACDase
lang: en
text: FLJ21558
lang: en
text: PHP32
lang: en
text: acid ceramidase
lang: en
text: acylsphingosine deacylase
GeneType: Name: gene with protein product
Rare disease: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (Orphanet code 261190)
Associated genes:
Name: Meis homeobox 2
Symbol: MEIS2
Synonyms: lang: en
text: HsT18361
lang: en
text: MRG1
GeneType: Name: gene with protein product
Rare disease: Myhre syndrome (Orphanet code 2588)
Associated genes:
Name: SMAD family member 4
Symbol: SMAD4
Synonyms: lang: en
text: DPC4
GeneType: Name: gene with protein product
Rare disease: Proximal 16p11.2 microdeletion syndrome (Orphanet code 261197)
Associated genes:
Name: SH2B adaptor protein 1
Symbol: SH2B1
Synonyms: lang: en
text: FLJ30542
lang: en
text: SH2-B homolog
lang: en
text: SH2B
GeneType: Name: gene with protein product
Rare disease: 20p12.3 microdeletion syndrome (Orphanet code 261295)
Associated genes:
Name: bone morphogenetic protein 2
Symbol: BMP2
GeneType: Name: gene with protein product
Rare disease: 17q23.1q23.2 microdeletion syndrome (Orphanet code 261279)
Associated genes:
Name: T-box transcription factor 4
Symbol: TBX4
GeneType: Name: gene with protein product
Rare disease: 17q12 microdeletion syndrome (Orphanet code 261265)
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
Name: LIM homeobox 1
Symbol: LHX1
Synonyms: lang: en
text: LIM-1
lang: en
text: LIM/homeobox protein Lhx1
lang: en
text: LIM1
GeneType: Name: gene with protein product
Rare disease: 3M syndrome (Orphanet code 2616)
Associated genes:
Name: cullin 7
Symbol: CUL7
Synonyms: lang: en
text: dJ20C7.5
GeneType: Name: gene with protein product
Name: obscurin like cytoskeletal adaptor 1
Symbol: OBSL1
Synonyms: lang: en
text: KIAA0657
GeneType: Name: gene with protein product
Name: coiled-coil domain containing 8
Symbol: CCDC8
Synonyms: lang: en
text: 3M3
lang: en
text: DKFZp564K0322
lang: en
text: PPP1R20
lang: en
text: protein phosphatase 1, regulatory subunit 20
GeneType: Name: gene with protein product
Rare disease: 16q24.3 microdeletion syndrome (Orphanet code 261250)
Associated genes:
Name: ankyrin repeat domain containing 11
Symbol: ANKRD11
Synonyms: lang: en
text: ANCO-1
lang: en
text: ANCO1
lang: en
text: LZ16
lang: en
text: T13
lang: en
text: ankyrin repeats containing cofactor 1
GeneType: Name: gene with protein product
Rare disease: Nail-patella-like renal disease (Orphanet code 2613)
Associated genes:
Name: LIM homeobox transcription factor 1 beta
Symbol: LMX1B
GeneType: Name: gene with protein product
Rare disease: Distal 17p13.3 microdeletion syndrome (Orphanet code 261257)
Associated genes:
Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Symbol: YWHAE
Synonyms: lang: en
text: 14-3-3 epsilon
lang: en
text: FLJ45465
GeneType: Name: gene with protein product
Rare disease: Geleophysic dysplasia (Orphanet code 2623)
Associated genes:
Name: fibrillin 1
Symbol: FBN1
Synonyms: lang: en
text: MASS
lang: en
text: Marfan syndrome
lang: en
text: OCTD
lang: en
text: SGS
lang: en
text: asprosin
GeneType: Name: gene with protein product
Name: ADAMTS like 2
Symbol: ADAMTSL2
Synonyms: lang: en
text: KIAA0605
GeneType: Name: gene with protein product
Name: latent transforming growth factor beta binding protein 3
Symbol: LTBP3
GeneType: Name: gene with protein product
Rare disease: Distal 22q11.2 microdeletion syndrome (Orphanet code 261330)
Associated genes:
Name: BCR activator of RhoGEF and GTPase
Symbol: BCR
Synonyms: lang: en
text: ALL
lang: en
text: CML
lang: en
text: D22S662
lang: en
text: PHL
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase 1
Symbol: MAPK1
Synonyms: lang: en
text: ERK
lang: en
text: ERK2
lang: en
text: Extracellular signal-regulated kinase 2
lang: en
text: MAPK2
lang: en
text: p41mapk
GeneType: Name: gene with protein product
Name: CRK like proto-oncogene, adaptor protein
Symbol: CRKL
GeneType: Name: gene with protein product
Rare disease: 21q22.11q22.12 microdeletion syndrome (Orphanet code 261323)
Associated genes:
Name: kinesin family member 15
Symbol: KIF15
Synonyms: lang: en
text: HKLP2
lang: en
text: NY-BR-62
GeneType: Name: gene with protein product
Rare disease: Fibular aplasia-complex brachydactyly syndrome (Orphanet code 2639)
Associated genes:
Name: bone morphogenetic protein receptor type 1B
Symbol: BMPR1B
Synonyms: lang: en
text: ALK6
lang: en
text: CDw293
GeneType: Name: gene with protein product
Name: growth differentiation factor 5
Symbol: GDF5
Synonyms: lang: en
text: BMP14
lang: en
text: CDMP1
lang: en
text: cartilage-derived morphogenetic protein-1
GeneType: Name: gene with protein product
Rare disease: Xq27.3q28 duplication syndrome (Orphanet code 261483)
Associated genes:
Name: fragile X messenger ribonucleoprotein 1
Symbol: FMR1
Synonyms: lang: en
text: FMRP
lang: en
text: FRAXA
lang: en
text: MGC87458
GeneType: Name: gene with protein product
Rare disease: Langer mesomelic dysplasia (Orphanet code 2632)
Associated genes:
Name: SHOX homeobox
Symbol: SHOX
Synonyms: lang: en
text: GCFX
lang: en
text: PHOG
lang: en
text: SHOX1
lang: en
text: SHOXY
lang: en
text: SS
lang: en
text: pseudoautosomal homeobox-containing osteogenic gene
GeneType: Name: gene with protein product
Rare disease: Osteoglosphonic dysplasia (Orphanet code 2645)
Associated genes:
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Rare disease: Familial adenomatous polyposis due to 5q22.2 microdeletion (Orphanet code 261584)
Associated genes:
Name: APC regulator of WNT signaling pathway
Symbol: APC
Synonyms: lang: en
text: DP2
lang: en
text: DP2.5
lang: en
text: DP3
lang: en
text: PPP1R46
lang: en
text: protein phosphatase 1, regulatory subunit 46
GeneType: Name: gene with protein product
Rare disease: Alagille syndrome due to 20p12 microdeletion (Orphanet code 261600)
Associated genes:
Name: jagged canonical Notch ligand 1
Symbol: JAG1
Synonyms: lang: en
text: AHD
lang: en
text: AWS
lang: en
text: CD339
lang: en
text: HJ1
GeneType: Name: gene with protein product
Rare disease: Alagille syndrome due to a JAG1 point mutation (Orphanet code 261619)
Associated genes:
Name: jagged canonical Notch ligand 1
Symbol: JAG1
Synonyms: lang: en
text: AHD
lang: en
text: AWS
lang: en
text: CD339
lang: en
text: HJ1
GeneType: Name: gene with protein product
Rare disease: Mowat-Wilson syndrome due to monosomy 2q22 (Orphanet code 261537)
Associated genes:
Name: zinc finger E-box binding homeobox 2
Symbol: ZEB2
Synonyms: lang: en
text: KIAA0569
lang: en
text: SIP-1
lang: en
text: SIP1
lang: en
text: SMAD interacting protein 1
GeneType: Name: gene with protein product
Rare disease: Mowat-Wilson syndrome due to a ZEB2 point mutation (Orphanet code 261552)
Associated genes:
Name: zinc finger E-box binding homeobox 2
Symbol: ZEB2
Synonyms: lang: en
text: KIAA0569
lang: en
text: SIP-1
lang: en
text: SIP1
lang: en
text: SMAD interacting protein 1
GeneType: Name: gene with protein product
Rare disease: Microcephalic osteodysplastic primordial dwarfism types I and III (Orphanet code 2636)
Associated genes:
Name: RNA, U4atac small nuclear
Symbol: RNU4ATAC
Synonyms: lang: en
text: RNU4ATAC1
lang: en
text: U4atac
lang: en
text: U4atac snRNA
GeneType: Name: Non-coding RNA
Rare disease: Lenz-Majewski hyperostotic dwarfism (Orphanet code 2658)
Associated genes:
Name: phosphatidylserine synthase 1
Symbol: PTDSS1
Synonyms: lang: en
text: KIAA0024
lang: en
text: PSS1
lang: en
text: PSSA
GeneType: Name: gene with protein product
Rare disease: Alagille syndrome due to a NOTCH2 point mutation (Orphanet code 261629)
Associated genes:
Name: notch receptor 2
Symbol: NOTCH2
GeneType: Name: gene with protein product
Rare disease: Okihiro syndrome due to 20q13 microdeletion (Orphanet code 261638)
Associated genes:
Name: spalt like transcription factor 4
Symbol: SALL4
Synonyms: lang: en
text: ZNF797
lang: en
text: dJ1112F19.1
GeneType: Name: gene with protein product
Rare disease: Okihiro syndrome due to a point mutation (Orphanet code 261647)
Associated genes:
Name: spalt like transcription factor 4
Symbol: SALL4
Synonyms: lang: en
text: ZNF797
lang: en
text: dJ1112F19.1
GeneType: Name: gene with protein product
Rare disease: Kleefstra syndrome due to a point mutation (Orphanet code 261652)
Associated genes:
Name: lysine methyltransferase 2C
Symbol: KMT2C
Synonyms: lang: en
text: HALR
lang: en
text: Histone-lysine N-methyltransferase 2C
lang: en
text: KIAA1506
GeneType: Name: gene with protein product
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: Monoamine oxidase A deficiency (Orphanet code 3057)
Associated genes:
Name: monoamine oxidase A
Symbol: MAOA
GeneType: Name: gene with protein product
Rare disease: Blepharophimosis-intellectual disability syndrome, SBBYS type (Orphanet code 3047)
Associated genes:
Name: lysine acetyltransferase 6B
Symbol: KAT6B
Synonyms: lang: en
text: MOZ-related factor
lang: en
text: MOZ2
lang: en
text: Morf
lang: en
text: ZC2HC6B
lang: en
text: qkf
lang: en
text: querkopf
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (Orphanet code 3042)
Associated genes:
Name: zinc finger and BTB domain containing 20
Symbol: ZBTB20
Synonyms: lang: en
text: DKFZp566F123
lang: en
text: DPZF
lang: en
text: ODA-8S
GeneType: Name: gene with protein product