TaoMedAI/RareMedData huggingface dataset:
Rare disease: Hand-foot-genital syndrome (Orphanet code 2438)
Associated genes:
Name: homeobox A13
Symbol: HOXA13
GeneType: Name: gene with protein product
Rare disease: Dimethylglycine dehydrogenase deficiency (Orphanet code 243343)
Associated genes:
Name: dimethylglycine dehydrogenase
Symbol: DMGDH
Synonyms: lang: en
text: ME2GLYDH
GeneType: Name: gene with protein product
Rare disease: Acute fatty liver of pregnancy (Orphanet code 243367)
Associated genes:
Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Symbol: HADHA
Synonyms: lang: en
text: GBP
lang: en
text: LCEH
lang: en
text: LCHAD
lang: en
text: MTPA
lang: en
text: gastrin-binding protein
lang: en
text: long-chain 2-enoyl-CoA hydratase
lang: en
text: long-chain-3-hydroxyacyl-CoA dehydrogenase
lang: en
text: mitochondrial trifunctional protein, alpha subunit
GeneType: Name: gene with protein product
Rare disease: Generalized pustular psoriasis (Orphanet code 247353)
Associated genes:
Name: interleukin 36 receptor antagonist
Symbol: IL36RN
Synonyms: lang: en
text: FIL1
lang: en
text: FIL1(DELTA)
lang: en
text: FIL1D
lang: en
text: IL-1 related protein 3
lang: en
text: IL-1F5
lang: en
text: IL1HY1
lang: en
text: IL1L1
lang: en
text: IL1RP3
lang: en
text: IL36RA
lang: en
text: MGC29840
lang: en
text: family of interleukin 1-delta
lang: en
text: interleukin-1 HY1
lang: en
text: interleukin-1 receptor antagonist homolog 1
GeneType: Name: gene with protein product
Name: adaptor related protein complex 1 subunit sigma 3
Symbol: AP1S3
Synonyms: lang: en
text: AP-1 complex subunit sigma 3
lang: en
text: sigma1C
GeneType: Name: gene with protein product
Rare disease: Hyperphosphatasia-intellectual disability syndrome (Orphanet code 247262)
Associated genes:
Name: phosphatidylinositol glycan anchor biosynthesis class V
Symbol: PIGV
Synonyms: lang: en
text: FLJ20477
lang: en
text: GPI mannosyltransferase 2
lang: en
text: GPI-MT-II
lang: en
text: PIG-V
lang: en
text: dol-P-Man dependent GPI mannosyltransferase II
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class L
Symbol: PIGL
Synonyms: lang: en
text: N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
lang: en
text: N-acetylglucosaminylphosphatidylinositol deacetylase
lang: en
text: PIG-L
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class O
Symbol: PIGO
Synonyms: lang: en
text: DKFZp434M222
lang: en
text: FLJ00135
lang: en
text: PIG-O
GeneType: Name: gene with protein product
Name: post-GPI attachment to proteins 2
Symbol: PGAP2
Synonyms: lang: en
text: CWH43-N
lang: en
text: Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)
lang: en
text: FGF receptor activating protein 1
lang: en
text: FRAG1
lang: en
text: cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Name: post-GPI attachment to proteins phospholipase 3
Symbol: PGAP3
Synonyms: lang: en
text: CAB2
lang: en
text: MGC9753
lang: en
text: PER1
lang: en
text: PP1498
lang: en
text: post-GPI attachment to proteins 3
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class W
Symbol: PIGW
Synonyms: lang: en
text: FLJ37433
lang: en
text: GPI-anchored wall protein transfer 1 homolog (S. cerevisiae)
lang: en
text: Gwt1
lang: en
text: PIG-W
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class Y
Symbol: PIGY
Synonyms: lang: en
text: MGC14156
lang: en
text: PIG-Y
lang: en
text: Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
GeneType: Name: gene with protein product
Rare disease: Melnick-Needles syndrome (Orphanet code 2484)
Associated genes:
Name: filamin A
Symbol: FLNA
Synonyms: lang: en
text: ABP-280
lang: en
text: actin binding protein 280
lang: en
text: alpha filamin
GeneType: Name: gene with protein product
Rare disease: Progressive cerebello-cerebral atrophy (Orphanet code 247198)
Associated genes:
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
Name: VPS53 subunit of GARP complex
Symbol: VPS53
Synonyms: lang: en
text: FLJ10979
lang: en
text: HCCS1
lang: en
text: hepatocellular carcinoma suppressor 1
GeneType: Name: gene with protein product
Rare disease: McKusick-Kaufman syndrome (Orphanet code 2473)
Associated genes:
Name: MKKS centrosomal shuttling protein
Symbol: MKKS
GeneType: Name: gene with protein product
Rare disease: Matthew-Wood syndrome (Orphanet code 2470)
Associated genes:
Name: signaling receptor and transporter of retinol STRA6
Symbol: STRA6
Synonyms: lang: en
text: FLJ12541
lang: en
text: RBP receptor
lang: en
text: retinol binding protein 4 receptor
GeneType: Name: gene with protein product
Name: retinoic acid receptor beta
Symbol: RARB
Synonyms: lang: en
text: HAP
lang: en
text: NR1B2
lang: en
text: RAR-beta
lang: en
text: RARbeta
lang: en
text: RRB2
GeneType: Name: gene with protein product
Name: Wnt family member 7B
Symbol: WNT7B
GeneType: Name: gene with protein product
Rare disease: Marshall-Smith syndrome (Orphanet code 561)
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: Marinesco-Sjögren syndrome (Orphanet code 559)
Associated genes:
Name: SIL1 nucleotide exchange factor
Symbol: SIL1
Synonyms: lang: en
text: BAP
lang: en
text: ULG5
GeneType: Name: gene with protein product
Rare disease: Shprintzen-Goldberg syndrome (Orphanet code 2462)
Associated genes:
Name: SKI proto-oncogene
Symbol: SKI
Synonyms: lang: en
text: Sloan-Kettering Institute proto-oncogene
GeneType: Name: gene with protein product
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: Marden-Walker syndrome (Orphanet code 2461)
Associated genes:
Name: piezo type mechanosensitive ion channel component 2
Symbol: PIEZO2
Synonyms: lang: en
text: FLJ23144
lang: en
text: FLJ23403
lang: en
text: FLJ34907
lang: en
text: HsT748
lang: en
text: HsT771
GeneType: Name: gene with protein product
Rare disease: Anaplastic oligodendroglioma (Orphanet code 251630)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Name: protection of telomeres 1
Symbol: POT1
Synonyms: lang: en
text: DKFZp586D211
lang: en
text: hPot1
GeneType: Name: gene with protein product
Rare disease: Ependymoma (Orphanet code 251636)
Associated genes:
Name: zinc finger translocation associated
Symbol: ZFTA
Synonyms: lang: en
text: MGC3032
GeneType: Name: gene with protein product
Rare disease: Infantile systemic hyalinosis (Orphanet code 2176)
Associated genes:
Name: ANTXR cell adhesion molecule 2
Symbol: ANTXR2
Synonyms: lang: en
text: CMG-2
lang: en
text: CMG2
lang: en
text: FLJ31074
lang: en
text: capillary morphogenesis protein 2
GeneType: Name: gene with protein product
Rare disease: Oligoastrocytoma (Orphanet code 251656)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Rare disease: Anaplastic oligoastrocytoma (Orphanet code 251663)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Rare disease: Angiocentric glioma (Orphanet code 251671)
Associated genes:
Name: MYB proto-oncogene, transcription factor
Symbol: MYB
Synonyms: lang: en
text: c-myb
GeneType: Name: gene with protein product
Name: QKI, KH domain containing RNA binding
Symbol: QKI
Synonyms: lang: en
text: QK3
GeneType: Name: gene with protein product
Rare disease: Hydrolethalus (Orphanet code 2189)
Associated genes:
Name: HYLS1 centriolar and ciliogenesis associated
Symbol: HYLS1
Synonyms: lang: en
text: FLJ32915
GeneType: Name: gene with protein product
Name: kinesin family member 7
Symbol: KIF7
Synonyms: lang: en
text: JBTS12
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant epidermolytic ichthyosis (Orphanet code 312)
Associated genes:
Name: keratin 1
Symbol: KRT1
Synonyms: lang: en
text: KRT1A
GeneType: Name: gene with protein product
Name: keratin 10
Symbol: KRT10
Synonyms: lang: en
text: CK10
lang: en
text: K10
lang: en
text: cytokeratin 10
lang: en
text: epidermolytic hyperkeratosis
GeneType: Name: gene with protein product
Rare disease: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (Orphanet code 2196)
Associated genes:
Name: claudin 19
Symbol: CLDN19
GeneType: Name: gene with protein product
Rare disease: Gliosarcoma (Orphanet code 251576)
Associated genes:
Name: NFKB inhibitor alpha
Symbol: NFKBIA
Synonyms: lang: en
text: IKBA
lang: en
text: IkappaBalpha
lang: en
text: MAD-3
lang: en
text: NF-kappa-B inhibitor alpha
GeneType: Name: gene with protein product
Name: O-6-methylguanine-DNA methyltransferase
Symbol: MGMT
Synonyms: lang: en
text: methylated-DNA--protein-cysteine methyltransferase
GeneType: Name: gene with protein product
Name: epidermal growth factor receptor
Symbol: EGFR
Synonyms: lang: en
text: ERBB1
lang: en
text: ERRP
lang: en
text: erb-b2 receptor tyrosine kinase 1
lang: en
text: erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
GeneType: Name: gene with protein product
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
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: transforming acidic coiled-coil containing protein 3
Symbol: TACC3
Synonyms: lang: en
text: ERIC-1
lang: en
text: ERIC1
lang: en
text: Tacc4
lang: en
text: maskin
GeneType: Name: gene with protein product
Name: transforming acidic coiled-coil containing protein 1
Symbol: TACC1
GeneType: Name: gene with protein product
Name: peroxisome proliferator activated receptor gamma
Symbol: PPARG
Synonyms: lang: en
text: NR1C3
lang: en
text: PPARG1
lang: en
text: PPARG2
lang: en
text: PPARgamma
GeneType: Name: gene with protein product
Name: leucine zipper like post translational regulator 1
Symbol: LZTR1
Synonyms: lang: en
text: BTBD29
lang: en
text: LZTR-1
GeneType: Name: gene with protein product
Name: septin 14
Symbol: SEPTIN14
Synonyms: lang: en
text: FLJ44060
lang: en
text: Septin-14
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NADP(+)) 1
Symbol: IDH1
GeneType: Name: gene with protein product
Rare disease: Giant cell glioblastoma (Orphanet code 251579)
Associated genes:
Name: ROS proto-oncogene 1, receptor tyrosine kinase
Symbol: ROS1
GeneType: Name: gene with protein product
Name: peroxisome proliferator activated receptor gamma
Symbol: PPARG
Synonyms: lang: en
text: NR1C3
lang: en
text: PPARG1
lang: en
text: PPARG2
lang: en
text: PPARgamma
GeneType: Name: gene with protein product
Name: NFKB inhibitor alpha
Symbol: NFKBIA
Synonyms: lang: en
text: IKBA
lang: en
text: IkappaBalpha
lang: en
text: MAD-3
lang: en
text: NF-kappa-B inhibitor alpha
GeneType: Name: gene with protein product
Name: O-6-methylguanine-DNA methyltransferase
Symbol: MGMT
Synonyms: lang: en
text: methylated-DNA--protein-cysteine methyltransferase
GeneType: Name: gene with protein product
Name: epidermal growth factor receptor
Symbol: EGFR
Synonyms: lang: en
text: ERBB1
lang: en
text: ERRP
lang: en
text: erb-b2 receptor tyrosine kinase 1
lang: en
text: erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)
GeneType: Name: gene with protein product
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
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: transforming acidic coiled-coil containing protein 3
Symbol: TACC3
Synonyms: lang: en
text: ERIC-1
lang: en
text: ERIC1
lang: en
text: Tacc4
lang: en
text: maskin
GeneType: Name: gene with protein product
Name: transforming acidic coiled-coil containing protein 1
Symbol: TACC1
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NADP(+)) 1
Symbol: IDH1
GeneType: Name: gene with protein product
Name: leucine zipper like post translational regulator 1
Symbol: LZTR1
Synonyms: lang: en
text: BTBD29
lang: en
text: LZTR-1
GeneType: Name: gene with protein product
Name: septin 14
Symbol: SEPTIN14
Synonyms: lang: en
text: FLJ44060
lang: en
text: Septin-14
GeneType: Name: gene with protein product
Rare disease: Anaplastic astrocytoma (Orphanet code 251589)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Rare disease: Protoplasmic astrocytoma (Orphanet code 251598)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Rare disease: Gemistocytic astrocytoma (Orphanet code 251604)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Rare disease: Fibrillary astrocytoma (Orphanet code 251601)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Rare disease: Pilomyxoid astrocytoma (Orphanet code 251615)
Associated genes:
Name: B-Raf proto-oncogene, serine/threonine kinase
Symbol: BRAF
Synonyms: lang: en
text: BRAF-1
lang: en
text: BRAF1
GeneType: Name: gene with protein product
Name: B-Raf proto-oncogene, serine/threonine kinase
Symbol: BRAF
Synonyms: lang: en
text: BRAF-1
lang: en
text: BRAF1
GeneType: Name: gene with protein product
Name: Raf-1 proto-oncogene, serine/threonine kinase
Symbol: RAF1
Synonyms: lang: en
text: C-Raf proto-oncogene, serine/threonine kinase
lang: en
text: CRAF
lang: en
text: Raf-1
lang: en
text: c-Raf
GeneType: Name: gene with protein product
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
Name: SLIT-ROBO Rho GTPase activating protein 3
Symbol: SRGAP3
Synonyms: lang: en
text: ARHGAP14
lang: en
text: KIAA0411
lang: en
text: MEGAP
lang: en
text: WRP
GeneType: Name: gene with protein product
Name: neurotrophic receptor tyrosine kinase 2
Symbol: NTRK2
Synonyms: lang: en
text: BDNF/NT-3 growth factors receptor
lang: en
text: TRKB
GeneType: Name: gene with protein product
Name: KIAA1549
Symbol: KIAA1549
GeneType: Name: gene with protein product
Name: KRAS proto-oncogene, GTPase
Symbol: KRAS
Synonyms: lang: en
text: K-Ras4B
lang: en
text: KRAS1
GeneType: Name: gene with protein product
Rare disease: Oligodendroglioma (Orphanet code 251627)
Associated genes:
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Name: protection of telomeres 1
Symbol: POT1
Synonyms: lang: en
text: DKFZp586D211
lang: en
text: hPot1
GeneType: Name: gene with protein product
Rare disease: Methylcobalamin deficiency type cblE (Orphanet code 2169)
Associated genes:
Name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Symbol: MTRR
Synonyms: lang: en
text: Methionine synthase reductase
lang: en
text: cblE
GeneType: Name: gene with protein product
Rare disease: Hypodontia-dysplasia of nails syndrome (Orphanet code 2228)
Associated genes:
Name: msh homeobox 1
Symbol: MSX1
Synonyms: lang: en
text: HYD1
lang: en
text: OFC5
GeneType: Name: gene with protein product
Rare disease: Hypertryptophanemia (Orphanet code 2224)
Associated genes:
Name: tryptophan 2,3-dioxygenase
Symbol: TDO2
Synonyms: lang: en
text: TDO
lang: en
text: TPH2
GeneType: Name: gene with protein product
Rare disease: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Orphanet code 2229)
Associated genes:
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Rare disease: Hypoparathyroidism-sensorineural deafness-renal disease syndrome (Orphanet code 2237)
Associated genes:
Name: GATA binding protein 3
Symbol: GATA3
Synonyms: lang: en
text: HDR
GeneType: Name: gene with protein product
Rare disease: Epidermolytic palmoplantar keratoderma (Orphanet code 2199)
Associated genes:
Name: keratin 1
Symbol: KRT1
Synonyms: lang: en
text: KRT1A
GeneType: Name: gene with protein product
Name: keratin 9
Symbol: KRT9
Synonyms: lang: en
text: CK-9
lang: en
text: EPPK
lang: en
text: K9
lang: en
text: cytokeratin 9
lang: en
text: epidermolytic palmoplantar keratoderma
lang: en
text: type I cytoskeletal 9
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: Desmoplastic/nodular medulloblastoma (Orphanet code 251863)
Associated genes:
Name: SUFU negative regulator of hedgehog signaling
Symbol: SUFU
Synonyms: lang: en
text: PRO1280
lang: en
text: SUFUH
lang: en
text: SUFUXL
GeneType: Name: gene with protein product
Rare disease: Palmoplantar keratoderma-esophageal carcinoma syndrome (Orphanet code 2198)
Associated genes:
Name: rhomboid 5 homolog 2
Symbol: RHBDF2
Synonyms: lang: en
text: FLJ22341
lang: en
text: RHBDL5
lang: en
text: TOCG
lang: en
text: iRhom2
GeneType: Name: gene with protein product
Rare disease: Medulloblastoma with extensive nodularity (Orphanet code 251858)
Associated genes:
Name: SUFU negative regulator of hedgehog signaling
Symbol: SUFU
Synonyms: lang: en
text: PRO1280
lang: en
text: SUFUH
lang: en
text: SUFUXL
GeneType: Name: gene with protein product
Rare disease: Palmoplantar keratoderma-deafness syndrome (Orphanet code 2202)
Associated genes:
Name: gap junction protein beta 2
Symbol: GJB2
Synonyms: lang: en
text: CX26
lang: en
text: NSRD1
lang: en
text: connexin 26
GeneType: Name: gene with protein product
Name: mitochondrially encoded tRNA-Ser (UCN) 1
Symbol: MT-TS1
Synonyms: lang: en
text: TRNS1
GeneType: Name: Non-coding RNA
Rare disease: Choroid plexus carcinoma (Orphanet code 251899)
Associated genes:
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Rare disease: 2q32q33 microdeletion syndrome (Orphanet code 251019)
Associated genes:
Name: SATB homeobox 2
Symbol: SATB2
Synonyms: lang: en
text: FLJ21474
lang: en
text: KIAA1034
GeneType: Name: gene with protein product
Rare disease: SATB2-associated syndrome due to a chromosomal rearrangement (Orphanet code 251028)
Associated genes:
Name: SATB homeobox 2
Symbol: SATB2
Synonyms: lang: en
text: FLJ21474
lang: en
text: KIAA1034
GeneType: Name: gene with protein product
Rare disease: Pallister-Hall syndrome (Orphanet code 672)
Associated genes:
Name: GLI family zinc finger 3
Symbol: GLI3
Synonyms: lang: en
text: ACLS
lang: en
text: DNA-binding protein
lang: en
text: PAP-A
lang: en
text: PAPA
lang: en
text: PAPA1
lang: en
text: PAPB
lang: en
text: PPDIV
lang: en
text: oncogene GLI3
lang: en
text: zinc finger protein GLI3
GeneType: Name: gene with protein product
Rare disease: Superficial epidermolytic ichthyosis (Orphanet code 455)
Associated genes:
Name: keratin 2
Symbol: KRT2
Synonyms: lang: en
text: KRTE
lang: en
text: epidermal ichthyosis bullosa of Siemens
GeneType: Name: gene with protein product
Rare disease: 7q31 microdeletion syndrome (Orphanet code 251061)
Associated genes:
Name: forkhead box P2
Symbol: FOXP2
Synonyms: lang: en
text: CAG repeat protein 44
lang: en
text: CAGH44
lang: en
text: forkhead/winged-helix transcription factor
lang: en
text: speech and language disorder 1
lang: en
text: trinucleotide repeat containing 10
GeneType: Name: gene with protein product
Rare disease: 8p11.2 deletion syndrome (Orphanet code 251066)
Associated genes:
Name: ankyrin 1
Symbol: ANK1
Synonyms: lang: en
text: SPH1
GeneType: Name: gene with protein product
Rare disease: 8p23.1 microdeletion syndrome (Orphanet code 251071)
Associated genes:
Name: GATA binding protein 4
Symbol: GATA4
GeneType: Name: gene with protein product
Rare disease: Ichthyosis follicularis-alopecia-photophobia syndrome (Orphanet code 2273)
Associated genes:
Name: membrane bound transcription factor peptidase, site 2
Symbol: MBTPS2
Synonyms: lang: en
text: S2P
lang: en
text: site-2 protease
lang: en
text: sterol regulatory element-binding proteins intramembrane protease
GeneType: Name: gene with protein product
Rare disease: CHILD syndrome (Orphanet code 139)
Associated genes:
Name: NAD(P) dependent steroid dehydrogenase-like
Symbol: NSDHL
Synonyms: lang: en
text: H105e3
lang: en
text: SDR31E1
lang: en
text: XAP104
lang: en
text: short chain dehydrogenase/reductase family 31E, member 1
GeneType: Name: gene with protein product
Rare disease: Harlequin ichthyosis (Orphanet code 457)
Associated genes:
Name: ATP binding cassette subfamily A member 12
Symbol: ABCA12
Synonyms: lang: en
text: DKFZP434G232
lang: en
text: LI2
GeneType: Name: gene with protein product
Rare disease: 6q25.2q25.3 microdeletion syndrome (Orphanet code 251056)
Associated genes:
Name: AT-rich interaction domain 1B
Symbol: ARID1B
Synonyms: lang: en
text: 6A3-5
lang: en
text: BAF250b
lang: en
text: DAN15
lang: en
text: ELD/OSA1
lang: en
text: KIAA1235
lang: en
text: SMARCF2
lang: en
text: p250R
GeneType: Name: gene with protein product
Rare disease: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland (Orphanet code 2239)
Associated genes:
Name: glial cells missing transcription factor 2
Symbol: GCM2
Synonyms: lang: en
text: hGCMb
GeneType: Name: gene with protein product
Rare disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome (Orphanet code 2241)
Associated genes:
Name: leiomodin 1
Symbol: LMOD1
Synonyms: lang: en
text: 1D
lang: en
text: 64kD
lang: en
text: D1
lang: en
text: SM-LMOD
lang: en
text: SMLMOD
GeneType: Name: gene with protein product
Name: myosin heavy chain 11
Symbol: MYH11
Synonyms: lang: en
text: SMHC
lang: en
text: SMMHC
lang: en
text: SMMS-1
GeneType: Name: gene with protein product
Name: actin gamma 2, smooth muscle
Symbol: ACTG2
Synonyms: lang: en
text: ACTSG
GeneType: Name: gene with protein product
Name: myosin light chain kinase
Symbol: MYLK
Synonyms: lang: en
text: KRP
lang: en
text: MLCK
lang: en
text: MLCK1
lang: en
text: MLCK108
lang: en
text: MLCK210
lang: en
text: MYLK-L
lang: en
text: MYLK1
lang: en
text: Telokin
lang: en
text: kinase related protein
lang: en
text: smMLCK
lang: en
text: smooth muscle myosin light chain kinase
GeneType: Name: gene with protein product