TaoMedAI/RareMedData huggingface dataset:
Rare disease: COQ7-related distal hereditary motor neuropathy (Orphanet code 658778)
Associated genes:
Name: coenzyme Q7, hydroxylase
Symbol: COQ7
Synonyms: lang: en
text: 5-demethoxyubiquinone hydroxylase
lang: en
text: CAT5
lang: en
text: CLK-1
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency (Orphanet code 658813)
Associated genes:
Name: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Symbol: MTHFD1
GeneType: Name: gene with protein product
Rare disease: Cleft velum (Orphanet code 99772)
Associated genes:
Name: grainyhead like transcription factor 3
Symbol: GRHL3
Synonyms: lang: en
text: SOM
lang: en
text: sister-of-mammalian grainyhead
GeneType: Name: gene with protein product
Name: ubiquitin B
Symbol: UBB
Synonyms: lang: en
text: FLJ25987
lang: en
text: MGC8385
lang: en
text: polyubiquitin B
GeneType: Name: gene with protein product
Rare disease: Bifid uvula (Orphanet code 99771)
Associated genes:
Name: ubiquitin B
Symbol: UBB
Synonyms: lang: en
text: FLJ25987
lang: en
text: MGC8385
lang: en
text: polyubiquitin B
GeneType: Name: gene with protein product
Name: grainyhead like transcription factor 3
Symbol: GRHL3
Synonyms: lang: en
text: SOM
lang: en
text: sister-of-mammalian grainyhead
GeneType: Name: gene with protein product
Rare disease: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency (Orphanet code 658946)
Associated genes:
Name: dedicator of cytokinesis 11
Symbol: DOCK11
Synonyms: lang: en
text: ACG
lang: en
text: FLJ32122
lang: en
text: FLJ43653
lang: en
text: ZIZ2
lang: en
text: zizimin2
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 82 (Orphanet code 631073)
Associated genes:
Name: phosphate cytidylyltransferase 2, ethanolamine
Symbol: PCYT2
Synonyms: lang: en
text: CTP:phosphoethanolamine cytidylyltransferase
lang: en
text: ET
lang: en
text: ethanolamine-phosphate cytidylyltransferase:
lang: en
text: phosphorylethanolamine transferase
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 83 (Orphanet code 631076)
Associated genes:
Name: 4-hydroxyphenylpyruvate dioxygenase like
Symbol: HPDL
Synonyms: lang: en
text: 4-HPPD-L
lang: en
text: MGC15668
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 84 (Orphanet code 631079)
Associated genes:
Name: phosphatidylinositol 4-kinase alpha
Symbol: PI4KA
Synonyms: lang: en
text: PI4K-ALPHA
lang: en
text: phosphatidylinositol 4-kinase III alpha
lang: en
text: phosphatidylinositol 4-kinase IIIa
lang: en
text: pi4K230
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 85 (Orphanet code 631082)
Associated genes:
Name: ring finger protein 170
Symbol: RNF170
Synonyms: lang: en
text: ADSA
lang: en
text: DKFZP564A022
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant spastic paraplegia type 80 (Orphanet code 631068)
Associated genes:
Name: ubiquitin associated protein 1
Symbol: UBAP1
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 49 (Orphanet code 631106)
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: Spinocerebellar ataxia type 48 (Orphanet code 631103)
Associated genes:
Name: STIP1 homology and U-box containing protein 1
Symbol: STUB1
Synonyms: lang: en
text: CHIP
lang: en
text: HSPABP2
lang: en
text: NY-CO-7
lang: en
text: SDCCAG7
lang: en
text: UBOX1
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 44 (Orphanet code 631095)
Associated genes:
Name: glutamate metabotropic receptor 1
Symbol: GRM1
Synonyms: lang: en
text: GPRC1A
lang: en
text: MGLUR1
lang: en
text: PPP1R85
lang: en
text: mGlu1
lang: en
text: protein phosphatase 1, regulatory subunit 85
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 87 (Orphanet code 631088)
Associated genes:
Name: transmembrane protein 63C
Symbol: TMEM63C
Synonyms: lang: en
text: CSC1
lang: en
text: DKFZp434P0111
lang: en
text: calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)
lang: en
text: hsCSC1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 86 (Orphanet code 631085)
Associated genes:
Name: abhydrolase domain containing 16A, phospholipase
Symbol: ABHD16A
Synonyms: lang: en
text: D6S82E
lang: en
text: NG26
lang: en
text: Phosphatidylserine lipase ABHD16A
GeneType: Name: gene with protein product
Rare disease: Mitchell Syndrome (Orphanet code 631248)
Associated genes:
Name: acyl-CoA oxidase 1
Symbol: ACOX1
Synonyms: lang: en
text: PALMCOX
lang: en
text: palmitoyl-CoA oxidase
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive myosin storage myopathy (Orphanet code 636970)
Associated genes:
Name: myosin heavy chain 7
Symbol: MYH7
Synonyms: lang: en
text: CMD1S
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant myosin storage myopathy (Orphanet code 636965)
Associated genes:
Name: myosin heavy chain 7
Symbol: MYH7
Synonyms: lang: en
text: CMD1S
GeneType: Name: gene with protein product
Rare disease: SMARCA2-related blepharophimosis-intellectual disability syndrome (Orphanet code 637013)
Associated genes:
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Symbol: SMARCA2
Synonyms: lang: en
text: BAF190
lang: en
text: BRM
lang: en
text: SNF2
lang: en
text: SNF2LA
lang: en
text: SWI2
lang: en
text: Sth1p
lang: en
text: brahma homolog
lang: en
text: hBRM
lang: en
text: hSNF2a
GeneType: Name: gene with protein product
Rare disease: Vascular Ehlers-Danlos-polymicrogyria syndrome (Orphanet code 636941)
Associated genes:
Name: collagen type III alpha 1 chain
Symbol: COL3A1
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with t(17;19) (Orphanet code 641375)
Associated genes:
Name: HLF transcription factor, PAR bZIP family member
Symbol: HLF
Synonyms: lang: en
text: MGC33822
GeneType: Name: gene with protein product
Name: transcription factor 3
Symbol: TCF3
Synonyms: lang: en
text: E2A
lang: en
text: E2A immunoglobulin enhancer-binding factor E12/E47
lang: en
text: E47
lang: en
text: ITF1
lang: en
text: MGC129647
lang: en
text: MGC129648
lang: en
text: VDIR
lang: en
text: VDR interacting repressor
lang: en
text: bHLHb21
lang: en
text: immunoglobulin transcription factor 1
lang: en
text: kappa-E2-binding factor
lang: en
text: p75
lang: en
text: transcription factor E2-alpha
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency (Orphanet code 641368)
Associated genes:
Name: zinc finger protein 341
Symbol: ZNF341
Synonyms: lang: en
text: dJ553F4.3
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) (Orphanet code 641372)
Associated genes:
Name: paired box 5
Symbol: PAX5
Synonyms: lang: en
text: B-cell lineage specific activator
lang: en
text: BSAP
lang: en
text: PAX-5
GeneType: Name: gene with protein product
Name: activator of transcription and developmental regulator AUTS2
Symbol: AUTS2
Synonyms: lang: en
text: FBRSL2
lang: en
text: KIAA0442
GeneType: Name: gene with protein product
Rare disease: Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome (Orphanet code 641353)
Associated genes:
Name: 4-hydroxyphenylpyruvate dioxygenase like
Symbol: HPDL
Synonyms: lang: en
text: 4-HPPD-L
lang: en
text: MGC15668
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome (Orphanet code 641361)
Associated genes:
Name: exosome component 5
Symbol: EXOSC5
Synonyms: lang: en
text: MGC12901
lang: en
text: RRP41B
lang: en
text: RRP46
lang: en
text: Rrp46p
lang: en
text: exosome component Rrp46
lang: en
text: hRrp46p
lang: en
text: p12B
GeneType: Name: gene with protein product
Rare disease: Perrault syndrome type 2 (Orphanet code 642976)
Associated genes:
Name: caseinolytic mitochondrial matrix peptidase proteolytic subunit
Symbol: CLPP
Synonyms: lang: en
text: ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human
GeneType: Name: gene with protein product
Name: Era like 12S mitochondrial rRNA chaperone 1
Symbol: ERAL1
Synonyms: lang: en
text: HERA-B
GeneType: Name: gene with protein product
Name: histidyl-tRNA synthetase 2, mitochondrial
Symbol: HARS2
Synonyms: lang: en
text: HARSR
lang: en
text: HO3
lang: en
text: histidine tRNA ligase 2, mitochondrial (putative)
GeneType: Name: gene with protein product
Name: hydroxysteroid 17-beta dehydrogenase 4
Symbol: HSD17B4
Synonyms: lang: en
text: 17-beta-HSD IV
lang: en
text: 17-beta-hydroxysteroid dehydrogenase 4
lang: en
text: 17beta-estradiol dehydrogenase type IV
lang: en
text: 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
lang: en
text: D-3-hydroxyacyl-CoA dehydratase
lang: en
text: D-bifunctional protein, peroxisomal
lang: en
text: DBP
lang: en
text: MFE-2
lang: en
text: SDR8C1
lang: en
text: beta-hydroxyacyl dehydrogenase
lang: en
text: beta-keto-reductase
lang: en
text: peroxisomal multifunctional protein 2
lang: en
text: short chain dehydrogenase/reductase family 8C, member 1
GeneType: Name: gene with protein product
Name: leucyl-tRNA synthetase 2, mitochondrial
Symbol: LARS2
Synonyms: lang: en
text: KIAA0028
lang: en
text: LEURS
lang: en
text: Leucine tRNA ligase 2, mitochondrial
lang: en
text: MGC26121
lang: en
text: leucine tRNA ligase 2, mitochondrial
lang: en
text: mtLeuRS
GeneType: Name: gene with protein product
Name: twinkle mtDNA helicase
Symbol: TWNK
Synonyms: lang: en
text: FLJ21832
lang: en
text: PEO
lang: en
text: PEO1
lang: en
text: T7 helicase-related protein with intramitochondrial nucleoid localization
lang: en
text: TWINKLE
lang: en
text: TWINL
GeneType: Name: gene with protein product
Name: geranylgeranyl diphosphate synthase 1
Symbol: GGPS1
Synonyms: lang: en
text: GGPPS1
lang: en
text: Geranylgeranyl pyrophosphate synthase
GeneType: Name: gene with protein product
Name: required for meiotic nuclear division 1 homolog
Symbol: RMND1
Synonyms: lang: en
text: FLJ20627
lang: en
text: RMD1
lang: en
text: bA351K16.3
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive ataxia due to PEX2 deficiency (Orphanet code 642965)
Associated genes:
Name: peroxisomal biogenesis factor 2
Symbol: PEX2
Synonyms: lang: en
text: PAF-1
lang: en
text: PMP35
lang: en
text: RNF72
lang: en
text: ZWS3
lang: en
text: Zellweger syndrome
lang: en
text: peroxin 2
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive ataxia due to PEX16 deficiency (Orphanet code 642954)
Associated genes:
Name: peroxisomal biogenesis factor 16
Symbol: PEX16
GeneType: Name: gene with protein product
Rare disease: Perrault syndrome type 1 (Orphanet code 642945)
Associated genes:
Name: caseinolytic mitochondrial matrix peptidase proteolytic subunit
Symbol: CLPP
Synonyms: lang: en
text: ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human
GeneType: Name: gene with protein product
Name: Era like 12S mitochondrial rRNA chaperone 1
Symbol: ERAL1
Synonyms: lang: en
text: HERA-B
GeneType: Name: gene with protein product
Name: histidyl-tRNA synthetase 2, mitochondrial
Symbol: HARS2
Synonyms: lang: en
text: HARSR
lang: en
text: HO3
lang: en
text: histidine tRNA ligase 2, mitochondrial (putative)
GeneType: Name: gene with protein product
Name: hydroxysteroid 17-beta dehydrogenase 4
Symbol: HSD17B4
Synonyms: lang: en
text: 17-beta-HSD IV
lang: en
text: 17-beta-hydroxysteroid dehydrogenase 4
lang: en
text: 17beta-estradiol dehydrogenase type IV
lang: en
text: 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
lang: en
text: D-3-hydroxyacyl-CoA dehydratase
lang: en
text: D-bifunctional protein, peroxisomal
lang: en
text: DBP
lang: en
text: MFE-2
lang: en
text: SDR8C1
lang: en
text: beta-hydroxyacyl dehydrogenase
lang: en
text: beta-keto-reductase
lang: en
text: peroxisomal multifunctional protein 2
lang: en
text: short chain dehydrogenase/reductase family 8C, member 1
GeneType: Name: gene with protein product
Name: leucyl-tRNA synthetase 2, mitochondrial
Symbol: LARS2
Synonyms: lang: en
text: KIAA0028
lang: en
text: LEURS
lang: en
text: Leucine tRNA ligase 2, mitochondrial
lang: en
text: MGC26121
lang: en
text: leucine tRNA ligase 2, mitochondrial
lang: en
text: mtLeuRS
GeneType: Name: gene with protein product
Name: twinkle mtDNA helicase
Symbol: TWNK
Synonyms: lang: en
text: FLJ21832
lang: en
text: PEO
lang: en
text: PEO1
lang: en
text: T7 helicase-related protein with intramitochondrial nucleoid localization
lang: en
text: TWINKLE
lang: en
text: TWINL
GeneType: Name: gene with protein product
Name: geranylgeranyl diphosphate synthase 1
Symbol: GGPS1
Synonyms: lang: en
text: GGPPS1
lang: en
text: Geranylgeranyl pyrophosphate synthase
GeneType: Name: gene with protein product
Name: required for meiotic nuclear division 1 homolog
Symbol: RMND1
Synonyms: lang: en
text: FLJ20627
lang: en
text: RMD1
lang: en
text: bA351K16.3
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation (Orphanet code 642763)
Associated genes:
Name: H1.4 linker histone, cluster member
Symbol: H1-4
Synonyms: lang: en
text: H1.4
lang: en
text: H1e
lang: en
text: H1s-4
GeneType: Name: gene with protein product
Rare disease: PUM1-related cerebellar ataxia (Orphanet code 642747)
Associated genes:
Name: pumilio RNA binding family member 1
Symbol: PUM1
Synonyms: lang: en
text: KIAA0099
lang: en
text: PUMH1
GeneType: Name: gene with protein product
Rare disease: Fragile X-associated primary ovarian insufficiency (Orphanet code 642691)
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: CHD8 overgrowth syndrome (Orphanet code 642675)
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
Rare disease: Familial hyperaldosteronism type IV (Orphanet code 642671)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 H
Symbol: CACNA1H
Synonyms: lang: en
text: Cav3.2
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type (Orphanet code 642099)
Associated genes:
Name: beta-1,3-galactosyltransferase 6
Symbol: B3GALT6
Synonyms: lang: en
text: beta-1,3-galactosyltransferase-6
lang: en
text: beta3GalT6
GeneType: Name: gene with protein product
Rare disease: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity (Orphanet code 642085)
Associated genes:
Name: exocyst complex component 6B
Symbol: EXOC6B
Synonyms: lang: en
text: KIAA0919
GeneType: Name: gene with protein product
Rare disease: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome (Orphanet code 632603)
Associated genes:
Name: ALF transcription elongation factor 3
Symbol: AFF3
Synonyms: lang: en
text: MLLT2-like
GeneType: Name: gene with protein product
Rare disease: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome (Orphanet code 633021)
Associated genes:
Name: solute carrier family 12 member 2
Symbol: SLC12A2
Synonyms: lang: en
text: BSC-2
lang: en
text: BSC2
lang: en
text: CCC1
lang: en
text: NKCC1
lang: en
text: PPP1R141
lang: en
text: basolateral Na-K-Cl symporter
lang: en
text: bumetanide-sensitive cotransporter type 2
lang: en
text: protein phosphatase 1, regulatory subunit 141
GeneType: Name: gene with protein product
Rare disease: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome (Orphanet code 633024)
Associated genes:
Name: solute carrier family 12 member 2
Symbol: SLC12A2
Synonyms: lang: en
text: BSC-2
lang: en
text: BSC2
lang: en
text: CCC1
lang: en
text: NKCC1
lang: en
text: PPP1R141
lang: en
text: basolateral Na-K-Cl symporter
lang: en
text: bumetanide-sensitive cotransporter type 2
lang: en
text: protein phosphatase 1, regulatory subunit 141
GeneType: Name: gene with protein product
Rare disease: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome (Orphanet code 633004)
Associated genes:
Name: lysine demethylase 3B
Symbol: KDM3B
Synonyms: lang: en
text: KIAA1082
lang: en
text: NET22
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-early-onset cataract-microcephaly syndrome (Orphanet code 633035)
Associated genes:
Name: COPI coat complex subunit beta 1
Symbol: COPB1
GeneType: Name: gene with protein product
Rare disease: CPE-related Prader-Willi-like syndrome (Orphanet code 633028)
Associated genes:
Name: carboxypeptidase E
Symbol: CPE
Synonyms: lang: en
text: carboxypeptidase H
lang: en
text: cobalt-stimulated chromaffin granule carboxypeptidase
lang: en
text: enkephalin convertase
lang: en
text: insulin granule-associated carboxypeptidase
GeneType: Name: gene with protein product
Rare disease: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster (Orphanet code 615986)
Associated genes:
Name: ATPase family AAA domain containing 3A
Symbol: ATAD3A
Synonyms: lang: en
text: FLJ10709
GeneType: Name: gene with protein product
Rare disease: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation (Orphanet code 615983)
Associated genes:
Name: ATPase family AAA domain containing 3A
Symbol: ATAD3A
Synonyms: lang: en
text: FLJ10709
GeneType: Name: gene with protein product
Rare disease: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome (Orphanet code 621758)
Associated genes:
Name: NHL repeat containing 2
Symbol: NHLRC2
Synonyms: lang: en
text: DKFZp779F115
lang: en
text: FLJ20147
lang: en
text: FLJ25621
lang: en
text: FLJ33312
lang: en
text: MGC45492
GeneType: Name: gene with protein product
Rare disease: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation (Orphanet code 620371)
Associated genes:
Name: mitochondrially encoded tRNA-Phe (UUU/C)
Symbol: MT-TF
Synonyms: lang: en
text: trnF
GeneType: Name: Non-coding RNA
Name: mitochondrially encoded tRNA-Ile (AUU/C)
Symbol: MT-TI
Synonyms: lang: en
text: trnI
GeneType: Name: Non-coding RNA
Rare disease: EGF-related primary hypomagnesemia with intellectual disability (Orphanet code 620368)
Associated genes:
Name: epidermal growth factor
Symbol: EGF
Synonyms: lang: en
text: Pro-epidermal growth factor
GeneType: Name: gene with protein product
Rare disease: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome (Orphanet code 620363)
Associated genes:
Name: cyclin and CBS domain divalent metal cation transport mediator 2
Symbol: CNNM2
GeneType: Name: gene with protein product
Rare disease: Bartter syndrome type 2 (Orphanet code 620220)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 1
Symbol: KCNJ1
Synonyms: lang: en
text: ATP-sensitive inward rectifier potassium channel 1
lang: en
text: Kir1.1
lang: en
text: ROMK1
GeneType: Name: gene with protein product
Rare disease: Non-syndromic non-specific multisutural craniosynostosis (Orphanet code 620158)
Associated genes:
Name: fuzzy planar cell polarity protein
Symbol: FUZ
Synonyms: lang: en
text: CPLANE3
lang: en
text: FLJ22688
lang: en
text: Fy
lang: en
text: ciliogenesis and planar polarity effector complex subunit 3
GeneType: Name: gene with protein product
Rare disease: MIR140-related spondyloepiphyseal dysplasia (Orphanet code 623695)
Associated genes:
Name: microRNA 140
Symbol: MIR140
Synonyms: lang: en
text: MIR-140
lang: en
text: hsa-mir-140
GeneType: Name: Non-coding RNA
Rare disease: X-linked severe syndromic thoracic aortic aneurysm and dissection (Orphanet code 622925)
Associated genes:
Name: biglycan
Symbol: BGN
Synonyms: lang: en
text: DSPG1
lang: en
text: SLRR1A
lang: en
text: biglycan proteoglycan
GeneType: Name: gene with protein product
Rare disease: SBDS-related severe neonatal spondylometaphyseal dysplasia (Orphanet code 622934)
Associated genes:
Name: SBDS ribosome maturation factor
Symbol: SBDS
Synonyms: lang: en
text: CGI-97
lang: en
text: FLJ10917
lang: en
text: SDO1
lang: en
text: SDS
lang: en
text: SWDS
GeneType: Name: gene with protein product
Rare disease: F12-associated cold autoinflammatory syndrome (Orphanet code 617919)
Associated genes:
Name: coagulation factor XII
Symbol: F12
Synonyms: lang: en
text: Plasma coagulation Factor XIIa
GeneType: Name: gene with protein product
Rare disease: Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency (Orphanet code 619941)
Associated genes:
Name: myocardin related transcription factor A
Symbol: MRTFA
Synonyms: lang: en
text: BSAC
lang: en
text: KIAA1438
lang: en
text: MAL
lang: en
text: MKL
lang: en
text: MRTF-A
lang: en
text: basic, SAP and coiled-coil domain
lang: en
text: megakaryocytic acute leukemia
lang: en
text: myocardin-related transcription factor A
GeneType: Name: gene with protein product
Rare disease: SAMD9L-associated autoinflammatory syndrome (Orphanet code 619367)
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: Familial hyperinflammatory lymphoproliferative immunodeficiency (Orphanet code 619953)
Associated genes:
Name: NCK associated protein 1 like
Symbol: NCKAP1L
GeneType: Name: gene with protein product
Rare disease: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency (Orphanet code 619948)
Associated genes:
Name: suppressor of cytokine signaling 1
Symbol: SOCS1
Synonyms: lang: en
text: Cish1
lang: en
text: JAB
lang: en
text: SOCS-1
lang: en
text: SSI-1
lang: en
text: TIP3
GeneType: Name: gene with protein product
Rare disease: Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome (Orphanet code 619979)
Associated genes:
Name: NFE2 like bZIP transcription factor 2
Symbol: NFE2L2
Synonyms: lang: en
text: NF-E2-related factor 2
lang: en
text: NRF-2
lang: en
text: NRF2
GeneType: Name: gene with protein product
Rare disease: CADINS disease (Orphanet code 619972)
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: NOCARH syndrome (Orphanet code 619363)
Associated genes:
Name: cell division cycle 42
Symbol: CDC42
Synonyms: lang: en
text: CDC42Hs
lang: en
text: G25K
lang: en
text: GTP binding protein, 25kDa
GeneType: Name: gene with protein product
Rare disease: Hereditary persistence of fetal hemoglobin-intellectual disability syndrome (Orphanet code 619233)
Associated genes:
Name: BCL11 transcription factor A
Symbol: BCL11A
Synonyms: lang: en
text: BCL11A-L
lang: en
text: BCL11A-S
lang: en
text: BCL11A-XL
lang: en
text: CTIP1
lang: en
text: HBFQTL5
lang: en
text: SMARCM1
lang: en
text: ZNF856
GeneType: Name: gene with protein product