TaoMedAI/RareMedData huggingface dataset:
Rare disease: Persistent polyclonal B-cell lymphocytosis (Orphanet code 300324)
Associated genes:
Name: caspase recruitment domain family member 11
Symbol: CARD11
Synonyms: lang: en
text: BIMP3
lang: en
text: CARMA1
lang: en
text: bcl10-interacting maguk protein 3
lang: en
text: card-maguk protein 1
GeneType: Name: gene with protein product
Rare disease: Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet code 300313)
Associated genes:
Name: solute carrier family 33 member 1
Symbol: SLC33A1
Synonyms: lang: en
text: AT-1
lang: en
text: AT1
lang: en
text: Acetyl-CoA transporter 1
GeneType: Name: gene with protein product
Rare disease: Severe congenital hypochromic anemia with ringed sideroblasts (Orphanet code 300298)
Associated genes:
Name: STEAP3 metalloreductase
Symbol: STEAP3
Synonyms: lang: en
text: STMP3
lang: en
text: TSAP6
lang: en
text: dudlin-2
lang: en
text: ferrireductase
GeneType: Name: gene with protein product
Rare disease: Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet code 300284)
Associated genes:
Name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
Symbol: PLOD3
Synonyms: lang: en
text: LH3
lang: en
text: Lysyl hydroxlase 3
lang: en
text: Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3
lang: en
text: lysyl hydroxlase 3
GeneType: Name: gene with protein product
Rare disease: Transient infantile hypertriglyceridemia and hepatosteatosis (Orphanet code 300293)
Associated genes:
Name: glycerol-3-phosphate dehydrogenase 1
Symbol: GPD1
GeneType: Name: gene with protein product
Name: cAMP responsive element binding protein 3 like 3
Symbol: CREB3L3
Synonyms: lang: en
text: CREB-H
lang: en
text: CREBH
lang: en
text: cAMP-responsive element-binding protein, hepatic-specific
GeneType: Name: gene with protein product
Rare disease: Progeroid and marfanoid aspect-lipodystrophy syndrome (Orphanet code 300382)
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
Rare disease: Autosomal systemic lupus erythematosus (Orphanet code 300345)
Associated genes:
Name: complement C1q A chain
Symbol: C1QA
GeneType: Name: gene with protein product
Name: complement C4A (Chido/Rodgers blood group)
Symbol: C4A
Synonyms: lang: en
text: C4
lang: en
text: C4A2
lang: en
text: C4A3
lang: en
text: C4A4
lang: en
text: C4A6
lang: en
text: C4B
lang: en
text: C4S
lang: en
text: CO4
lang: en
text: CPAMD2
lang: en
text: RG
GeneType: Name: gene with protein product
Name: deoxyribonuclease 1L3
Symbol: DNASE1L3
Synonyms: lang: en
text: D3
lang: en
text: DNAS1L3
lang: en
text: DNase gamma
lang: en
text: DNaseY
lang: en
text: LS-DNase
lang: en
text: LSD
GeneType: Name: gene with protein product
Name: protein kinase C delta
Symbol: PRKCD
GeneType: Name: gene with protein product
Name: complement C1r
Symbol: C1R
GeneType: Name: gene with protein product
Name: deoxyribonuclease 1
Symbol: DNASE1
GeneType: Name: gene with protein product
Rare disease: PLCG2-associated antibody deficiency and immune dysregulation (Orphanet code 300359)
Associated genes:
Name: phospholipase C gamma 2
Symbol: PLCG2
GeneType: Name: gene with protein product
Rare disease: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome (Orphanet code 300333)
Associated genes:
Name: CD151 molecule (Raph blood group)
Symbol: CD151
Synonyms: lang: en
text: PETA-3
lang: en
text: RAPH
lang: en
text: SFA-1
lang: en
text: TSPAN24
GeneType: Name: gene with protein product
Rare disease: Fever-associated acute infantile liver failure syndrome (Orphanet code 464724)
Associated genes:
Name: NBAS subunit of NRZ tethering complex
Symbol: NBAS
Synonyms: lang: en
text: NAG
GeneType: Name: gene with protein product
Name: RAD50 interactor 1
Symbol: RINT1
Synonyms: lang: en
text: FLJ11785
lang: en
text: RINT-1
GeneType: Name: gene with protein product
Rare disease: Basel-Vanagaite-Smirin-Yosef syndrome (Orphanet code 464738)
Associated genes:
Name: mediator complex subunit 25
Symbol: MED25
Synonyms: lang: en
text: ACID1
lang: en
text: ARC92
lang: en
text: DKFZp434K0512
lang: en
text: TCBAP0758
GeneType: Name: gene with protein product
Rare disease: Familial cavitary optic disc anomaly (Orphanet code 464760)
Associated genes:
Name: matrix metallopeptidase 19
Symbol: MMP19
Synonyms: lang: en
text: RASI-1
GeneType: Name: gene with protein product
Rare disease: Familial gastric type 1 neuroendocrine tumor (Orphanet code 464756)
Associated genes:
Name: ATPase H+/K+ transporting subunit alpha
Symbol: ATP4A
Synonyms: lang: en
text: ATP6A
lang: en
text: H(+)-K(+)-ATPase alpha subunit
lang: en
text: gastric H,K-ATPase alpha subunit
lang: en
text: proton pump
GeneType: Name: gene with protein product
Rare disease: Symptomatic form of HFE-related hemochromatosis (Orphanet code 465508)
Associated genes:
Name: homeostatic iron regulator
Symbol: HFE
Synonyms: lang: en
text: HFE1
lang: en
text: HLA-H
lang: en
text: high Fe
GeneType: Name: gene with protein product
Name: bone morphogenetic protein 6
Symbol: BMP6
Synonyms: lang: en
text: VGR1
GeneType: Name: gene with protein product
Rare disease: Spastic paraplegia-severe developmental delay-epilepsy syndrome (Orphanet code 464282)
Associated genes:
Name: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
Symbol: HACE1
Synonyms: lang: en
text: KIAA1320
GeneType: Name: gene with protein product
Rare disease: Short stature-brachydactyly-obesity-global developmental delay syndrome (Orphanet code 464288)
Associated genes:
Name: protein arginine methyltransferase 7
Symbol: PRMT7
Synonyms: lang: en
text: FLJ10640
lang: en
text: KIAA1933
GeneType: Name: gene with protein product
Rare disease: Intellectual disability syndrome due to a DYRK1A point mutation (Orphanet code 464311)
Associated genes:
Name: dual specificity tyrosine phosphorylation regulated kinase 1A
Symbol: DYRK1A
GeneType: Name: gene with protein product
Rare disease: NEK9-related lethal skeletal dysplasia (Orphanet code 464366)
Associated genes:
Name: NIMA related kinase 9
Symbol: NEK9
Synonyms: lang: en
text: DKFZp434D0935
lang: en
text: MGC16714
lang: en
text: NERCC
lang: en
text: NERCC1
lang: en
text: Nek8
GeneType: Name: gene with protein product
Rare disease: BENTA disease (Orphanet code 464336)
Associated genes:
Name: caspase recruitment domain family member 11
Symbol: CARD11
Synonyms: lang: en
text: BIMP3
lang: en
text: CARMA1
lang: en
text: bcl10-interacting maguk protein 3
lang: en
text: card-maguk protein 1
GeneType: Name: gene with protein product
Rare disease: COG6-CGD (Orphanet code 464443)
Associated genes:
Name: component of oligomeric golgi complex 6
Symbol: COG6
Synonyms: lang: en
text: COD2
lang: en
text: KIAA1134
GeneType: Name: gene with protein product
Rare disease: Primary dystonia, DYT27 type (Orphanet code 464440)
Associated genes:
Name: collagen type VI alpha 3 chain
Symbol: COL6A3
GeneType: Name: gene with protein product
Rare disease: Neonatal alloimmune neutropenia (Orphanet code 464370)
Associated genes:
Name: Fc fragment of IgG receptor IIIb
Symbol: FCGR3B
Synonyms: lang: en
text: CD16
lang: en
text: CD16b
lang: en
text: Fc gamma receptor IIIb
lang: en
text: FcRIIIb
lang: en
text: FcgammaRIIIb
GeneType: Name: gene with protein product
Rare disease: X-linked myotubular myopathy-abnormal genitalia syndrome (Orphanet code 456328)
Associated genes:
Name: mastermind like domain containing 1
Symbol: MAMLD1
Synonyms: lang: en
text: CG1
lang: en
text: F18
GeneType: Name: gene with protein product
Name: myotubularin 1
Symbol: MTM1
GeneType: Name: gene with protein product
Rare disease: Hereditary neuroendocrine tumor of small intestine (Orphanet code 456333)
Associated genes:
Name: inositol polyphosphate multikinase
Symbol: IPMK
GeneType: Name: gene with protein product
Rare disease: Infantile multisystem neurologic-endocrine-pancreatic disease (Orphanet code 456312)
Associated genes:
Name: peptidyl-tRNA hydrolase 2
Symbol: PTRH2
Synonyms: lang: en
text: BIT1
lang: en
text: Bcl-2 inhibitor of transcription
lang: en
text: CFAP37
lang: en
text: CGI-147
lang: en
text: PTH2
lang: en
text: cilia and flagella associated protein 37
GeneType: Name: gene with protein product
Rare disease: Hereditary sensory neuropathy-deafness-dementia syndrome (Orphanet code 456318)
Associated genes:
Name: DNA methyltransferase 1
Symbol: DNMT1
Synonyms: lang: en
text: CXXC9
lang: en
text: MCMT
GeneType: Name: gene with protein product
Rare disease: NTHL1-related attenuated familial adenomatous polyposis (Orphanet code 454840)
Associated genes:
Name: nth like DNA glycosylase 1
Symbol: NTHL1
Synonyms: lang: en
text: NTH1
lang: en
text: OCTS3
GeneType: Name: gene with protein product
Rare disease: Pleomorphic salivary gland adenoma (Orphanet code 454821)
Associated genes:
Name: PLAG1 zinc finger
Symbol: PLAG1
Synonyms: lang: en
text: ZNF912
GeneType: Name: gene with protein product
Name: high mobility group AT-hook 2
Symbol: HMGA2
Synonyms: lang: en
text: BABL
lang: en
text: LIPO
GeneType: Name: gene with protein product
Rare disease: Kuru (Orphanet code 454745)
Associated genes:
Name: prion protein (Kanno blood group)
Symbol: PRNP
Synonyms: lang: en
text: AltPrP
lang: en
text: CD230
lang: en
text: Creutzfeldt-Jakob disease
lang: en
text: Gerstmann-Strausler-Scheinker syndrome
lang: en
text: PRP
lang: en
text: fatal familial insomnia
lang: en
text: p27-30
GeneType: Name: gene with protein product
Rare disease: Polyendocrine-polyneuropathy syndrome (Orphanet code 453533)
Associated genes:
Name: Dmx like 2
Symbol: DMXL2
Synonyms: lang: en
text: DFNA71
lang: en
text: KIAA0856
lang: en
text: RC3
lang: en
text: rabconnectin 3
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency (Orphanet code 453521)
Associated genes:
Name: CWF19 like cell cycle control factor 1
Symbol: CWF19L1
Synonyms: lang: en
text: FLJ10998
lang: en
text: hDrn1
lang: en
text: human Dbr1 associated ribonuclease 1
GeneType: Name: gene with protein product
Rare disease: Familial congenital nasolacrimal duct obstruction (Orphanet code 451612)
Associated genes:
Name: immunoglobulin superfamily member 3
Symbol: IGSF3
Synonyms: lang: en
text: EWI-3
lang: en
text: MGC117164
lang: en
text: V8
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (Orphanet code 453504)
Associated genes:
Name: heterogeneous nuclear ribonucleoprotein K
Symbol: HNRNPK
Synonyms: lang: en
text: CSBP
lang: en
text: TUNP
lang: en
text: transformation upregulated nuclear protein
GeneType: Name: gene with protein product
Rare disease: Congenital insensitivity to pain with severe intellectual disability (Orphanet code 453510)
Associated genes:
Name: clathrin heavy chain like 1
Symbol: CLTCL1
Synonyms: lang: en
text: CHC22
lang: en
text: CLH22
lang: en
text: CLTD
GeneType: Name: gene with protein product
Rare disease: Symptomatic form of fragile X syndrome in female carriers (Orphanet code 449291)
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: Isolated focal non-epidermolytic palmoplantar keratoderma (Orphanet code 448264)
Associated genes:
Name: transient receptor potential cation channel subfamily V member 3
Symbol: TRPV3
Synonyms: lang: en
text: VRL3
GeneType: Name: gene with protein product
Name: keratin 16
Symbol: KRT16
Synonyms: lang: en
text: NEPPK
lang: en
text: focal non-epidermolytic palmoplantar keratoderma
GeneType: Name: gene with protein product
Rare disease: Progressive autosomal recessive ataxia-deafness syndrome (Orphanet code 448251)
Associated genes:
Name: solute carrier family 9 member A1
Symbol: SLC9A1
Synonyms: lang: en
text: PPP1R143
lang: en
text: Sodium/hydrogen exchanger 1
lang: en
text: protein phosphatase 1, regulatory subunit 143
GeneType: Name: gene with protein product
Rare disease: Regressive spondylometaphyseal dysplasia (Orphanet code 448267)
Associated genes:
Name: lamin B receptor
Symbol: LBR
Synonyms: lang: en
text: DHCR14B
lang: en
text: TDRD18
lang: en
text: tudor domain containing 18
GeneType: Name: gene with protein product
Rare disease: CAD-CDG (Orphanet code 448010)
Associated genes:
Name: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Symbol: CAD
Synonyms: lang: en
text: GATD4
GeneType: Name: gene with protein product
Rare disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (Orphanet code 447997)
Associated genes:
Name: solute carrier family 1 member 4
Symbol: SLC1A4
Synonyms: lang: en
text: ASCT-1
lang: en
text: ASCT1
lang: en
text: SATT
lang: en
text: alanine/serine/cysteine/threonine transporter
lang: en
text: neutral amino acid transporter A
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive brachyolmia (Orphanet code 448242)
Associated genes:
Name: 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Symbol: PAPSS2
Synonyms: lang: en
text: ATPSK2
lang: en
text: PAPS synthase 2
lang: en
text: adenosine 5'-phosphosulfate kinase
lang: en
text: adenylyl-sulfate kinase
lang: en
text: bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
lang: en
text: sulfate adenylyltransferase
GeneType: Name: gene with protein product
Rare disease: Progressive scapulohumeroperoneal distal myopathy (Orphanet code 447977)
Associated genes:
Name: actin alpha 1, skeletal muscle
Symbol: ACTA1
Synonyms: lang: en
text: NEM3
lang: en
text: nemaline myopathy type 3
GeneType: Name: gene with protein product
Rare disease: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (Orphanet code 447974)
Associated genes:
Name: myosin XVIIIB
Symbol: MYO18B
Synonyms: lang: en
text: BK125H2.1
GeneType: Name: gene with protein product
Rare disease: 19p13.3 microduplication syndrome (Orphanet code 447980)
Associated genes:
Name: nuclear factor I X
Symbol: NFIX
Synonyms: lang: en
text: CCAAT-binding transcription factor
lang: en
text: NF1A
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 25 (Orphanet code 447954)
Associated genes:
Name: methionyl-tRNA synthetase 2, mitochondrial
Symbol: MARS2
Synonyms: lang: en
text: Methionine tRNA ligase 2, mitochondrial
lang: en
text: SPAX3
lang: en
text: methionine tRNA ligase 2, mitochondrial
lang: en
text: mtMetRS
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2V (Orphanet code 447964)
Associated genes:
Name: N-acetyl-alpha-glucosaminidase
Symbol: NAGLU
Synonyms: lang: en
text: NAG
lang: en
text: Sanfilippo disease IIIB
GeneType: Name: gene with protein product
Rare disease: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome (Orphanet code 447961)
Associated genes:
Name: SAM and SH3 domain containing 1
Symbol: SASH1
Synonyms: lang: en
text: KIAA0790
lang: en
text: SH3D6A
lang: en
text: dJ323M4.1
GeneType: Name: gene with protein product
Rare disease: Ataxia-oculomotor apraxia type 4 (Orphanet code 459033)
Associated genes:
Name: polynucleotide kinase 3'-phosphatase
Symbol: PNKP
Synonyms: lang: en
text: PNK
GeneType: Name: gene with protein product
Rare disease: Spondyloepiphyseal dysplasia, Stanescu type (Orphanet code 459051)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome (Orphanet code 459061)
Associated genes:
Name: diphthamide biosynthesis 1
Symbol: DPH1
Synonyms: lang: en
text: OVCA1
lang: en
text: ovarian tumor suppressor candidate 1
GeneType: Name: gene with protein product
Name: diphthamide biosynthesis 2
Symbol: DPH2
Synonyms: lang: en
text: 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 75 (Orphanet code 459056)
Associated genes:
Name: myelin associated glycoprotein
Symbol: MAG
Synonyms: lang: en
text: S-MAG
lang: en
text: SIGLEC-4A
lang: en
text: SIGLEC4
lang: en
text: SIGLEC4A
lang: en
text: sialic acid binding Ig-like lectin 4A
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (Orphanet code 459070)
Associated genes:
Name: ribosomal protein L10
Symbol: RPL10
Synonyms: lang: en
text: DXS648
lang: en
text: DXS648E
lang: en
text: FLJ23544
lang: en
text: L10
lang: en
text: NOV
lang: en
text: QM
lang: en
text: uL16
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 41 (Orphanet code 458798)
Associated genes:
Name: transient receptor potential cation channel subfamily C member 3
Symbol: TRPC3
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 42 (Orphanet code 458803)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 G
Symbol: CACNA1G
Synonyms: lang: en
text: Cav3.1
lang: en
text: NBR13
GeneType: Name: gene with protein product
Rare disease: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (Orphanet code 457485)
Associated genes:
Name: mechanistic target of rapamycin kinase
Symbol: MTOR
Synonyms: lang: en
text: FK506 binding protein 12-rapamycin associated protein 2
lang: en
text: FKBP-rapamycin associated protein
lang: en
text: FKBP12-rapamycin complex-associated protein 1
lang: en
text: FLJ44809
lang: en
text: RAFT1
lang: en
text: RAPT1
lang: en
text: dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)
lang: en
text: mammalian target of rapamycin
lang: en
text: rapamycin and FKBP12 target 1
lang: en
text: rapamycin associated protein FRAP2
lang: en
text: rapamycin target protein
GeneType: Name: gene with protein product
Rare disease: Progressive myoclonic epilepsy type 9 (Orphanet code 457265)
Associated genes:
Name: lamin B2
Symbol: LMNB2
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (Orphanet code 457279)
Associated genes:
Name: protein phosphatase 2 regulatory subunit B'delta
Symbol: PPP2R5D
Synonyms: lang: en
text: B56D
lang: en
text: B56delta
lang: en
text: Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-hypotonia-movement disorder syndrome (Orphanet code 457260)
Associated genes:
Name: DEAD-box helicase 3 X-linked
Symbol: DDX3X
Synonyms: lang: en
text: CAP-Rf
lang: en
text: DBX
lang: en
text: DDX14
lang: en
text: HLP2
lang: en
text: Helicase-like protein 2
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-short stature-overweight syndrome (Orphanet code 457240)
Associated genes:
Name: THO complex subunit 2
Symbol: THOC2
Synonyms: lang: en
text: THO2
lang: en
text: dJ506G2.1
GeneType: Name: gene with protein product
Rare disease: Clear cell sarcoma of kidney (Orphanet code 457246)
Associated genes:
Name: BCL6 corepressor
Symbol: BCOR
Synonyms: lang: en
text: BCL-6 coreceptor
lang: en
text: BCL6 interacting corepressor
lang: en
text: FLJ20285
lang: en
text: KIAA1575
GeneType: Name: gene with protein product
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
Name: NUT family member 2B
Symbol: NUTM2B
Synonyms: lang: en
text: bA119F19.1
GeneType: Name: gene with protein product
Name: NUT family member 2E
Symbol: NUTM2E
GeneType: Name: gene with protein product
Name: telomerase reverse transcriptase
Symbol: TERT
Synonyms: lang: en
text: EST2
lang: en
text: TCS1
lang: en
text: TP2
lang: en
text: TRT
lang: en
text: hEST2
GeneType: Name: gene with protein product
Name: iroquois homeobox 2
Symbol: IRX2
GeneType: Name: gene with protein product
Rare disease: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (Orphanet code 457395)
Associated genes:
Name: ring finger and SPRY domain containing 1
Symbol: RSPRY1
Synonyms: lang: en
text: KIAA1972
GeneType: Name: gene with protein product
Rare disease: Multiple mitochondrial dysfunctions syndrome type 4 (Orphanet code 457406)
Associated genes:
Name: iron-sulfur cluster assembly 2
Symbol: ISCA2
Synonyms: lang: en
text: ISA2
GeneType: Name: gene with protein product
Rare disease: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement (Orphanet code 457375)
Associated genes:
Name: inosine triphosphatase
Symbol: ITPA
Synonyms: lang: en
text: HLC14-06-P
lang: en
text: dJ794I6.3
lang: en
text: nucleoside-triphosphate diphosphatase
GeneType: Name: gene with protein product
Rare disease: Complex lethal osteochondrodysplasia (Orphanet code 457378)
Associated genes:
Name: transmembrane anterior posterior transformation 1
Symbol: TAPT1
Synonyms: lang: en
text: FLJ90013
GeneType: Name: gene with protein product
Rare disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (Orphanet code 457359)
Associated genes:
Name: HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
Symbol: HERC1
Synonyms: lang: en
text: p532
lang: en
text: p619
GeneType: Name: gene with protein product
Rare disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (Orphanet code 457284)
Associated genes:
Name: protein phosphatase 2 scaffold subunit Aalpha
Symbol: PPP2R1A
Synonyms: lang: en
text: PP2A-Aalpha
lang: en
text: PP2AA
lang: en
text: PR65A
lang: en
text: Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform
lang: en
text: protein phosphatase 2, 65kDa regulatory subunit A
lang: en
text: protein phosphatase 2A structural subunit A, alpha isoform
lang: en
text: protein phosphatase 2A, regulatory subunit A, alpha isoform
GeneType: Name: gene with protein product
Rare disease: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (Orphanet code 457351)
Associated genes:
Name: AFG2 AAA ATPase homolog A
Symbol: AFG2A
Synonyms: lang: en
text: AFG2
lang: en
text: ATPase family gene 2 homolog (S. cerevisiae)
lang: en
text: SPAF
GeneType: Name: gene with protein product
Rare disease: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (Orphanet code 457185)
Associated genes:
Name: coenzyme Q4
Symbol: COQ4
Synonyms: lang: en
text: CGI-92
GeneType: Name: gene with protein product
Rare disease: Predisposition to invasive fungal disease due to CARD9 deficiency (Orphanet code 457088)
Associated genes:
Name: caspase recruitment domain family member 9
Symbol: CARD9
GeneType: Name: gene with protein product
Rare disease: Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (Orphanet code 457223)
Associated genes:
Name: mitochondrial ribosomal protein S7
Symbol: MRPS7
Synonyms: lang: en
text: MRP-S
lang: en
text: RP-S7
lang: en
text: RPMS7
lang: en
text: uS7m
GeneType: Name: gene with protein product
Rare disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (Orphanet code 457212)
Associated genes:
Name: solute carrier family 6 member 17
Symbol: SLC6A17
Synonyms: lang: en
text: NTT4
lang: en
text: Sodium-dependent neutral amino acid transporter SLC6A17
lang: en
text: neurotransmitter transporter 4
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (Orphanet code 457193)
Associated genes:
Name: lysine acetyltransferase 6A
Symbol: KAT6A
Synonyms: lang: en
text: MOZ
lang: en
text: Monocytic leukemia zinc finger protein
lang: en
text: ZC2HC6A
GeneType: Name: gene with protein product