name: PPR3C_MOUSE Protein phosphatase 1 regulatory subunit 3C (sprot)

description: A protein phosphatase 1 regulatory subunit 3C that is encoded in the genome of mouse.


name: protein phosphatase 1 regulatory subunit 3C isoform 1 (mouse)

description: A protein phosphatase 1 regulatory subunit 3C isoform 1 that is encoded in the genome of mouse.


name: serine protease FAM111B methylated 2 (human)

description: A serine protease FAM111B (human) that has been methylated on the residue at the position equivalent to Cys-43 of the amino acid sequence represented by UniProtKB:Q6SJ93-1. Example: UniProtKB:Q6SJ93-1, Cys-43, MOD:00660.


name: Set1/Ash2 histone methyltransferase complex subunit ASH2 isoform h3 (human)

description: A Set1/Ash2 histone methyltransferase complex subunit ASH2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UBL3-3.


name: CMRF35-like molecule 8 isoform h4 (human)

description: A CMRF35-like molecule 8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGN4-4.


name: CLM8_HUMAN CMRF35-like molecule 8 (sprot)

description: A CMRF35-like molecule 8 that is encoded in the genome of human.


name: CMRF35-like molecule 8 methylated 1 (human)

description: A CMRF35-like molecule 8 (human) that has been methylated on the residue at the position equivalent to Cys-15 of the amino acid sequence represented by UniProtKB:Q9UGN4-1. Example: UniProtKB:Q9UGN4-1, Cys-15, MOD:00660.


name: CMRF35-like molecule 8 cysteinylated 1 (human)

description: A CMRF35-like molecule 8 (human) that has been cysteinylated on the residue at the position equivalent to Cys-15 of the amino acid sequence represented by UniProtKB:Q9UGN4-1. Example: UniProtKB:Q9UGN4-1, Cys-15, MOD:00765.


name: CMRF35-like molecule 8, signal peptide removed form (human)

description: A CMRF35-like molecule 8 (human) that has had the signal peptide removed. Example: UniProtKB:Q9UGN4-1, 18-299.


name: CMRF35-like molecule 8 isoform h3 (human)

description: A CMRF35-like molecule 8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGN4-3.


name: CMRF35-like molecule 8 isoform h1 (human)

description: A CMRF35-like molecule 8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGN4-1.


name: CMRF35-like molecule 8 isoform h2 (human)

description: A CMRF35-like molecule 8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGN4-2.


name: lysosome membrane protein 2 isoform 1 (human)

description: A lysosome membrane protein 2 isoform 1 that is encoded in the genome of human.


name: Grade 4 Cranial Nerve VI Intra-Operative Injury, CTCAE

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


name: Locally Advanced Unresectable Gallbladder Carcinoma

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Gallbladder carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: autosomal dominant nonsyndromic hearing loss 17

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.


An S-substituted N-acetyl-L-cysteine in which the S-substitutuent is specified as 5-acetamido-2-hydroxyphenyl.


name: Grade 4 Abdomen Infection NOS with Unknown Absolute Neutrophil Count, CTCAE


SAMADERINS C

A quassinoid  isolated from Quassia indica and has been shown to exhibit antineoplastic activity.


name: HAKAI_HUMAN E3 ubiquitin-protein ligase Hakai (sprot)

description: An E3 ubiquitin-protein ligase Hakai that is encoded in the genome of human.


name: E3 ubiquitin-protein ligase Hakai isoform h2 (human)

description: An E3 ubiquitin-protein ligase Hakai (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q75N03-2.


name: E3 ubiquitin-protein ligase Hakai methylated 1 (human)

description: An E3 ubiquitin-protein ligase Hakai (human) that has been methylated on the residue at the position equivalent to Cys-73 of the amino acid sequence represented by UniProtKB:Q75N03-1. Example: UniProtKB:Q75N03-1, Cys-73, MOD:00660.


name: YEAV_ECOLI Uncharacterized transporter YeaV (sprot)

description: An uncharacterized transporter YeaV that is encoded in the genome of Escherichia coli K-12.


name: NMD3_YEAST 60S ribosomal export protein NMD3 (sprot)

description: A 60S ribosomal export protein NMD3 that is encoded in the genome of yeast.


name: ARH_RAT Low density lipoprotein receptor adapter protein 1 (sprot)

description: A low density lipoprotein receptor adapter protein 1 that is encoded in the genome of rat.


name: serine/threonine-protein kinase tousled-like 2 isoform 3 (human)

description: A serine/threonine-protein kinase tousled-like 2 isoform 3 that is encoded in the genome of human.


name: solute carrier family 2, facilitated glucose transporter member 2 O-glycosylated 1 (human)

description: A solute carrier family 2, facilitated glucose transporter member 2 (human) that has been O-glycosylated at the residue equivalent to Thr-69 of the amino acid sequence represented by UniProtKB:P11168-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P11168-1, Thr-69, MOD:00005~GNO:G43417UB.


name: Grade 2 Non-Infectious Vaginal Discharge, CTCAE


name: Grade 1 Non-Infectious Vaginal Discharge, CTCAE


name: auxin-responsive protein IAA13 isoform 2 (Arabidopsis thaliana)

description: An auxin-responsive protein IAA13 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q38831-2.


name: IAA13_ARATH Auxin-responsive protein IAA13 (sprot)

description: A protein that is a translation product of the IAA13 gene in Arabidopsis thaliana.


name: auxin-responsive protein IAA13 isoform 1 (Arabidopsis thaliana)

description: An auxin-responsive protein IAA13 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q38831-1.


synphilin-1 isoform h1 (human)

A synphilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y6H5-1.


cacibiocin A

An aminocoumarin resulting from the formal condensation of one of the carboxy groups of pyrrole-2,5-dicarboxylic acid with the amino group of 3-amino-4,7-dihydroxycoumarin. It is a natural product isolated from Catenulispora acidiphila that doesn't exhibit an antimicrobial activity contrary to most aminocoumarins.


Stage IIIA Uveal Melanoma AJCC v7

description: Stage IIIA includes: (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0).  T2c: Ciliary body and choroid: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T2d: Ciliary body and choroid: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T3b: Ciliary body and choroid: Tumor size category 3 with ciliary body involvement. T3c: Ciliary body and choroid: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T4a: Iris: Tumor with extrascleral extension less than or equal to 5 mm in diameter.  Ciliary body and choroid: Tumor size category 4 without ciliary body involvement and extraocular extension.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


NUC1_CAEEL Deoxyribonuclease-2 (sprot)

A protein that is a translation product of the nuc-1 gene in worm.


name: YMCA_BACSU Uncharacterized protein YmcA (sprot)

description: A protein that is a translation product of the ymcA gene in Bacillus subtilis subsp. subtilis str. 168.


dTDP

A thymidine phosphate having a diphosphate group at the 5'-position.


name: Bcl-2-like protein 1 isoform Bcl-X(beta) (mouse)

description: A Bcl-2-like protein 1 isoform 4 that is encoded in the genome of mouse.


Bcl-2-like protein 1 isoform 4

A Bcl-2-like protein 1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q64373-3 or a 1:1 ortholog thereof.


name: PTB domain-containing engulfment adapter protein 1 isoform 2 (zebrafish)

description: A PTB domain-containing engulfment adapter protein 1 (zebrafish) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q32PV0-2.


Grade 5 Hematuria, CTCAE

description: Death


name: Q9TZ68_CAEEL Cytochrome c oxidase copper chaperone (trembl)

description: A cytochrome c oxidase copper chaperone that is encoded in the genome of worm.


name: P23A3_MOUSE Proline-rich protein 23A3 (sprot)

description: A protein that is a translation product of the Prr23a3 gene in mouse.


F162B_MOUSE Protein FAM162B (sprot)

A protein FAM162B that is encoded in the genome of mouse.


name: RS181_MYCTU Small ribosomal subunit protein bS18A (sprot)

description: A protein that is a translation product of the rpsR1 gene in Mycobacterium tuberculosis H37Rv.


name: SPRY domain-containing SOCS box protein 4 isoform m2 (mouse)

description: A SPRY domain-containing SOCS box protein 4 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8R5B6-2.


name: BLOC-3 complex member HPS4 isoform h4 (human)

description: A BLOC-3 complex member HPS4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NQG7-4.


eIF5-mimic protein 2 isoform h1 (human)

An eIF5-mimic protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7L1Q6-1.


CLETHROIDOSIDE E

A triterpenoid saponin that is (3beta,16alpha)-13,28-epoxyoleanane-3,16-diol attached to a  tetrasaccharide residue at position 3 via a glycosidic linkage. It has been isolated from the aerial parts of Lysimachia clethroides.


name: muscarinic acetylcholine receptor DM1 isoform A (fruit fly)

description: A muscarinic acetylcholine receptor DM1 (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P16395-2.


name: calmodulin-like protein 4 isoform h1 (human)

description: A calmodulin-like protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96GE6-1.


CYC2_ARATH Cytochrome c-2 (sprot)

A protein that is a translation product of the CYTC-2 gene in Arabidopsis thaliana.


Achard syndrome

description: A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet.


name: HAT2_SCHPO Histone acetyltransferase type B subunit 2 (sprot)

description: A protein that is a translation product of the mis16 gene in Schizosaccharomyces pombe 972h-.


name: MFP1_ARATH MAR-binding filament-like protein 1 (sprot)

description: A myosin-14 that is encoded in the genome of Arabidopsis thaliana.


name: RS72_ARATH Small ribosomal subunit protein eS7y (sprot)

description: A protein that is a translation product of the RPS7B gene in Arabidopsis thaliana.


name: protein phosphatase 1 regulatory subunit 12C isoform h2 (human)

description: A protein phosphatase 1 regulatory subunit 12C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BZL4-2.


name: protein phosphatase 1 regulatory subunit 12C

description: A protein that is a translation product of the human PPP1R12C gene or a 1:1 ortholog thereof.


name: PP12C_HUMAN Protein phosphatase 1 regulatory subunit 12C (sprot)

description: A protein phosphatase 1 regulatory subunit 12C that is encoded in the genome of human.


name: protein phosphatase 1 regulatory subunit 12C acetylated 1 (human)

description: A protein phosphatase 1 regulatory subunit 12C (human) that has been acetylated on the residue at the position equivalent to Lys-198 of the amino acid sequence represented by UniProtKB:Q9BZL4-1. Example: UniProtKB:Q9BZL4-1, Lys-198, MOD:00723.


name: protein phosphatase 1 regulatory subunit 12C isoform h5 (human)

description: A protein phosphatase 1 regulatory subunit 12C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BZL4-5.


name: protein phosphatase 1 regulatory subunit 12C methylated 1 (human)

description: A protein phosphatase 1 regulatory subunit 12C (human) that has been methylated on the residue at the position equivalent to Cys-494 of the amino acid sequence represented by UniProtKB:Q9BZL4-1. Example: UniProtKB:Q9BZL4-1, Cys-494, MOD:00660.


name: protein phosphatase 1 regulatory subunit 12C phosphorylated 1 (human)

description: A protein phosphatase 1 regulatory subunit 12C (human) that has been phosphorylated on the residue at the position equivalent to Tyr-152 of the amino acid sequence represented by UniProtKB:Q9BZL4-1. Example: UniProtKB:Q9BZL4-1, Tyr-152, MOD:00048.


name: protein phosphatase 1 regulatory subunit 12C isoform h1 (human)

description: A protein phosphatase 1 regulatory subunit 12C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BZL4-1.


name: protein phosphatase 1 regulatory subunit 12C isoform h4 (human)

description: A protein phosphatase 1 regulatory subunit 12C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BZL4-4.


name: PP12C_MOUSE Protein phosphatase 1 regulatory subunit 12C (sprot)

description: A protein phosphatase 1 regulatory subunit 12C that is encoded in the genome of mouse.


name: protein phosphatase 1 regulatory subunit 12C isoform h3 (human)

description: A protein phosphatase 1 regulatory subunit 12C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BZL4-3.


name: SPO14_SCHPO Membrane glycoprotein spo14 (sprot)

description: A protein that is a translation product of the spo14 gene in Schizosaccharomyces pombe 972h-.


name: platelet-derived growth factor subunit A isoform Short (rat)

description: A platelet-derived growth factor subunit A isoform 2 that is encoded in the genome of rat.


name: Impairment of Bolus Preparation or Mastication

description: An observation of an individual's bolus preparation and/or mastication prior to swallowing.


name: Minimal Chewing or Mashing with Majority of Bolus Unchewed

description: A finding of minimal chewing or mashing with majority of bolus unchewed prior to swallowing.


name: Timely and Efficient Chewing and Mashing

description: A finding of timely and efficient chewing and mashing prior to swallowing.


name: Disorganized Chewing or Mashing with Solid Pieces of Bolus Unchewed

description: A finding of disorganized chewing or mashing with solid pieces of bolus unchewed prior to swallowing.


name: Slow Prolonged Chewing or Mashing with Complete Re-Collection

description: A finding of slow prolonged chewing or mashing with complete re-collection prior to swallowing.


protein SSX1

A protein that is a translation product of the human SSX1 gene or a 1:1 ortholog thereof.


SSX1_HUMAN Protein SSX1 (sprot)

A protein SSX1 that is encoded in the genome of human.


A thiouridine that is 2-thiouridine bearing an additional methoxycarbonylmethyl substituent at position 5 on the thiouracil ring.


URIDINE TRIACETATE

An acetate ester that is uracil in which the three hydroxy hydrogens are replaced by acetate group. A prodrug for uridine, it is used for the treatment of hereditary orotic aciduria  and for management of fluorouracil toxicity.


A thiouridine that is 2-thiouridine bearing an additional carboxymethylaminomethyl substituent at position 5 on the thiouracil ring.


An organofluorine compound that is uridine bearing a fluoro substituent at position 5 on the uracil ring.


A methyluridine that consists of uridine bearing a single methyl substituent located at position O-2' on the ribose ring.


dihydrouridine

The uridine derivative obtained by formal hydrogenation of the endocyclic double bond in the uracil ring.


Uridine bearing an additional carboxy(hydroxy)methyl substituent at position 5.


A derivative of uridine, bearing an additional carboxymethylaminomethyl substituent at position 5 on the uracil ring.


A member of the class of uridines that is uridine in which the hydrogen at position 5 of the pyrimidine ring is substituted by a 2-amino-2-oxoethyl group.


A member of the class of uridines that is uridine in which the hydrogen at position 5 of the uracil ring is substituted by a hydroxy group.


A derivative of uridine, bearing an additional methoxycarbonylmethyl substituent at position 5 on the uracil ring.


A uridine that is 5,6-dihydrouridine substituted at position 3 by a 3-amino-3-carboxypropyl group.


orotidine

A nucleoside formed by attaching orotic acid to a ribose ring via a beta-N(1)-glycosidic bond.


A derivative of uridine, bearing an additional methoxy substituent at position 5 on the uracil ring.


A methyluridine that consists of uridine bearing two methyl substituents located at position C-5 on the uracil ring and position O-2' on the ribose ring.


A thiouridine that is 2-thiouridine bearing an additional methoxyaminomethyl substituent at position 5 on the thiouracil ring.


A thiouridine in which the oxygen replaced by sulfur is that at C-2.


A derivative of uridine, bearing an additional 3-amino-3-carboxypropyl substituent at position 5 on the uracil ring.


A derivative of uridine, bearing an additional methylaminomethyl substituent at position 5 on the uracil ring.


methyl uridin-5-yloxyacetate

A methyl ester that is uridine which is substituted at position 5 on the uracil ring by a methoxycarbonylmethoxy group.


methyluridine

A uridine bearing one or more methyl substituents.


ribothymidine

A methyluridine having a single methyl substituent at the 5-position on the uracil ring.


A uridine having a bromo substituent at the 5-position.


UDP-N-acetyltunicamine-uracil

A UDP-amino sugar that is an intermediate in the biosynthesis of the tunicamycins.


Uridine bearing an additional carboxymethyl substituent at position 5.


uridin-5-yloxyacetic acid

A derivative of uridine, bearing an additional carboxymethoxy substituent at position 5 on the uracil ring.


name: zinc metalloproteinase nas-30 isoform b (worm)

description: A zinc metalloproteinase nas-30 (worm) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9N2V2-2.


acne keloid

description: A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.


name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 isoform r2 (rat)

description: A UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6GV29-2.


name: LUC7_SCHPO U1 snRNP-associated protein usp106 (sprot)

description: A putative RNA-binding protein Luc7-like 1 that is encoded in the genome of Schizosaccharomyces pombe 972h-.


name: protein Z-dependent protease inhibitor N-glycosylated 2 (human)

description: A protein Z-dependent protease inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-295 of the amino acid sequence represented by UniProtKB:Q9UK55-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:Q9UK55-1, Asn-295, MOD:00160~GNO:G00912UN.


name: ZPI_HUMAN Protein Z-dependent protease inhibitor (sprot)

description: A protein Z-dependent protease inhibitor that is encoded in the genome of human.


name: protein Z-dependent protease inhibitor, signal peptide removed form (human)

description: A protein Z-dependent protease inhibitor (human) that has had the signal peptide removed. UniProtKB:Q9UK55, 22-444.


name: protein Z-dependent protease inhibitor, signal peptide removed phosphorylated form (human)

description: A protein Z-dependent protease inhibitor (human) that has had the signal peptide removed and that includes at least 1 phosphorylated residue. UniProtKB:Q9UK55, 22-444, MOD:00696.


name: protein Z-dependent protease inhibitor N-glycosylated 1 (human)

description: A protein Z-dependent protease inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:Q9UK55-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:Q9UK55-1, Asn-180, MOD:00160~GNO:G06247RL.


name: Grade 1 Thoracic Duct Intra-Operative Injury, CTCAE


name: dorsal root ganglia homeobox protein isoform 1 (mouse)

description: A dorsal root ganglia homeobox protein isoform 1 that is encoded in the genome of mouse.


canine prostate carcinoma

description: A malignant epithelial neoplasm arising from the prostate gland of a dog.


SYV_CAEEL Valine--tRNA ligase (sprot)

A valine--tRNA ligase that is encoded in the genome of worm.


name: PKS42_DICDI Probable polyketide synthase 42 (sprot)

description: A protein that is a translation product of the pks42 gene in Dictyostelium discoideum.


name: sodium channel protein para isoform C (fruit fly)

description: A sodium channel protein para (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P35500-4.


name: NR1I2_MOUSE Nuclear receptor subfamily 1 group I member 2 (sprot)

description: A nuclear receptor subfamily 1 group I member 2 that is encoded in the genome of mouse.


name: nuclear receptor subfamily 1 group I member 2 isoform m2 (mouse)

description: A nuclear receptor subfamily 1 group I member 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O54915-2.


name: nuclear receptor subfamily 1 group I member 2 isoform 1 (mouse)

description: A nuclear receptor subfamily 1 group I member 2 isoform 1 that is encoded in the genome of mouse.


APOC3_RAT Apolipoprotein C-III (sprot)

An apolipoprotein C-III that is encoded in the genome of rat.


name: troponin C, slow skeletal and cardiac muscles isoform 1

description: A troponin C, slow skeletal and cardiac muscles that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P63316-1 or a 1:1 ortholog thereof.


name: troponin C, slow skeletal and cardiac muscles isoform 1 (mouse)

description: A troponin C, slow skeletal and cardiac muscles isoform 1 that is encoded in the genome of mouse.


name: troponin C, slow skeletal and cardiac muscles isoform 1 (chicken)

description: A troponin C, slow skeletal and cardiac muscles isoform 1 that is encoded in the genome of chicken.


name: myelin-oligodendrocyte glycoprotein N-glycosylated 25 (rat)

description: A myelin-oligodendrocyte glycoprotein (rat) that has been N-glycosylated at the residue equivalent to Asn-58 of the amino acid sequence represented by UniProtKB:Q63345-1, in which the glycan structure is represented by GlyTouCan:G33320JS. Example: UniProtKB:Q63345-1, Asn-58, MOD:00160~GNO:G33320JS.


name: Large Malignant Glands Lined with Pseudostratified Epithelium Present

description: A morphologic finding indicating the presence of large malignant glands that are lined with pseudostratified epithelium in a tumor sample.


name: CRED_ECOLI Inner membrane protein CreD (sprot)

description: An inner membrane protein CreD that is encoded in the genome of Escherichia coli K-12.


name: vitamin K-dependent protein C N-glycosylated 32 (human)

description: A vitamin K-dependent protein C (human) that has been N-glycosylated at the residue equivalent to Asn-371 of the amino acid sequence represented by UniProtKB:P04070-1, in which the glycan structure is represented by GlyTouCan:G17409FQ. Example: UniProtKB:P04070-1, Asn-371, MOD:00160~GNO:G17409FQ.


name: DNA-directed RNA polymerases I, II, and III subunit RPABC3, initiator methionine removed form (human)

description: A DNA-directed RNA polymerases I, II, and III subunit RPABC3, initiator methionine removed form in human. Example: UniProtKB:P52434-1, 2-150.


name: DNA-directed RNA polymerases I, II, and III subunit RPABC3, initiator methionine removed form

description: A DNA-directed RNA polymerases I, II, and III subunit RPABC3 that has had the initiator methionine removed.


A glyco-amino acid consisting of a D-fructosyl residue attached to the epsilon-amino group of N(alpha)-formyl-L-lysine.


name: protein DEHYDRATION-INDUCED 19 homolog 5 isoform 1 (Arabidopsis thaliana)

description: A protein DEHYDRATION-INDUCED 19 homolog 5 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O04259-1.


name: Y4476_DICDI Putative uncharacterized protein DDB_G0292614 (sprot)

description: A protein that is a translation product of the DDB_G0292614 gene in Dictyostelium discoideum.


name: adenylate kinase 2, mitochondrial isoform h6 (human)

description: An adenylate kinase 2, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54819-6.


name: IL36A_HUMAN Interleukin-36 alpha (sprot)

description: An interleukin-36 alpha that is encoded in the genome of human.


name: polypyrimidine tract-binding protein homolog 2 isoform 1 (Arabidopsis thaliana)

description: A polypyrimidine tract-binding protein homolog 2 (Arabidopsis thaliana) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9FGL9-1.


name: PTBP2_ARATH Polypyrimidine tract-binding protein homolog 2 (sprot)

description: A protein that is a translation product of the At5g53180 gene in Arabidopsis thaliana.


name: dedicator of cytokinesis protein 2 methylated 4 (human)

description: A dedicator of cytokinesis protein 2 (human) that has been methylated on the residue at the position equivalent to Lys-61 of the amino acid sequence represented by UniProtKB:Q92608-1. Example: UniProtKB:Q92608-1, Lys-61, MOD:00663.


name: glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform GPDH-1 (fruit fly)

description: A glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P13706-2.


name: GPDA_DROME Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (sprot)

description: A glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic that is encoded in the genome of fruit fly.


name: glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform GPDH-3 (fruit fly)

description: A glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P13706-4.


name: glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform GPDH-4 (fruit fly)

description: A glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P13706-1.


name: glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic isoform GPDH-2 (fruit fly)

description: A glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P13706-3.


Gln-Tyr

A dipeptide obtained by formal condensation of the carboxy group of L-glutamine  with the amino group of L-tyrosine.


neurotrimin N-glycosylated 2 (rat)

A neurotrimin (rat) that has been N-glycosylated at the residue equivalent to Asn-292 of the amino acid sequence represented by UniProtKB:Q62718-1, in which the glycan structure is represented by GlyTouCan:G70258ML. Example: UniProtKB:Q62718-1, Asn-292, MOD:00160~GNO:G70258ML.


name: Grade 3 Mediastinum Infection NOS with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: Mediastinum Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils NOS, CTCAE


name: Grade 4 Mediastinum Infection NOS with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: Grade 2 Mediastinum Infection NOS with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: Grade 5 Mediastinum Infection NOS with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: PGH2_RAT Prostaglandin G/H synthase 2 (sprot)

description: A prostaglandin G/H synthase 2 that is encoded in the genome of rat.


name: prostaglandin G/H synthase 2 isoform 1 (rat)

description: A prostaglandin G/H synthase 2 isoform 1 that is encoded in the genome of rat.


name: S12A8_RAT Solute carrier family 12 member 8 (sprot)

description: A solute carrier family 12 member 8 that is encoded in the genome of rat.


name: solute carrier family 12 member 8 isoform r1 (rat)

description: A solute carrier family 12 member 8 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CJI3-1.


name: solute carrier family 12 member 8 isoform r2 (rat)

description: A solute carrier family 12 member 8 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CJI3-2.


name: immunoglobulin heavy constant alpha 1 N-glycosylated 13 (human)

description: An immunoglobulin heavy constant alpha 1 (human) that has been N-glycosylated at the residue equivalent to Asn-144 of the amino acid sequence represented by UniProtKB:P01876-2, in which the glycan composition is represented by GlyTouCan:G49955PK. Example: UniProtKB:P01876-2, Asn-144, MOD:00160~GNO:G49955PK.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Gln-638 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Gln-638, MOD:00685.


A protein that is a translation product of the human PARP4 gene or a 1:1 ortholog thereof.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Asn-1081 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Asn-1081, MOD:00684.


name: PARP4_MOUSE Protein mono-ADP-ribosyltransferase PARP4 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP4 that is encoded in the genome of mouse.


name: PARP4_HUMAN Protein mono-ADP-ribosyltransferase PARP4 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP4 that is encoded in the genome of human.


name: protein mono-ADP-ribosyltransferase PARP4 methylated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been methylated on the residue at the position equivalent to Cys-1019 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Cys-1019, MOD:00660.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 4 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Asn-62 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Asn-62, MOD:00684.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 5 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Asn-155 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Asn-155, MOD:00684.


name: protein mono-ADP-ribosyltransferase PARP4 hydroxylated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been hydroxylated on the residue at the position equivalent to Trp-954 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Trp-954, MOD:01622.


name: protein mono-ADP-ribosyltransferase PARP4 cysteinylated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-880 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Cys-880, MOD:00765.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 3 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Gln-60 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Gln-60, MOD:00685.


name: protein mono-ADP-ribosyltransferase PARP4 methylated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been methylated on the residue at the position equivalent to Cys-503 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Cys-503, MOD:00660.


name: protein mono-ADP-ribosyltransferase PARP4 phosphorylated 1 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1274 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Ser-1274, MOD:00046.


name: Q54LJ4_DICDI Poly [ADP-ribose] polymerase (trembl)

description: A protein mono-ADP-ribosyltransferase PARP4 that is encoded in the genome of Dictyostelium discoideum.


name: protein mono-ADP-ribosyltransferase PARP4 cysteinylated 2 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-1499 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Cys-1499, MOD:00765.


name: protein mono-ADP-ribosyltransferase PARP4 deaminated 6 (human)

description: A protein mono-ADP-ribosyltransferase PARP4 (human) that has been deaminated on the residue at the position equivalent to Asn-368 of the amino acid sequence represented by UniProtKB:Q9UKK3. UniProtKB:Q9UKK3, Asn-368, MOD:00684.


name: MPP8_RAT M-phase phosphoprotein 8 (sprot)

description: A protein mono-ADP-ribosyltransferase PARP4 that is encoded in the genome of rat.


name: RS20_NEIG1 Small ribosomal subunit protein bS20 (sprot)

description: A small ribosomal subunit protein bS20 that is encoded in the genome of Neisseria gonorrhoeae FA 1090.


name: Rho guanine nucleotide exchange factor 25 isoform h3 (human)

description: A Rho guanine nucleotide exchange factor 25 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86VW2-3.


name: leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 phosphorylated 1 (mouse)

description: A leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 phosphorylated 1 in mouse. UniProtKB:Q9D1T0, Ser-596, MOD:00046.


name: ORF10_SARS2 Putative ORF10 protein (sprot)

description: A protein that is a translation product of the ORF10 gene in SARS-CoV-2.


viscumneoside III

A viscumneoside that is homoeriodictyol in which the hydroxy group at position 7 has been converted into the corresponding beta-D-glucopyranoside, the 2-hydroxy group of which has been converted to its beta-D-apiofuranoside derivative. Found in Viscum coloratum, an evergreen hemiparasitic plant whose stems and leaves are used in traditional Chinese medicine for the treatment of rheumatism.


name: YIFK_ECOLI Probable transport protein YifK (sprot)

description: A probable transport protein YifK that is encoded in the genome of Escherichia coli K-12.


ethyl 5-hexenoate

The fatty acid ethyl ester of 5-hexenoic acid.


name: Q76NU4_DICDI E set domain-containing protein (trembl)

description: A retrograde Golgi transport protein RGP1 that is encoded in the genome of Dictyostelium discoideum.


An enone with a trimethylcyclohexenyl substituent at C-1.


name: baculoviral IAP repeat-containing protein 6 methylated 11 (human)

description: A baculoviral IAP repeat-containing protein 6 (human) that has been methylated on the residue at the position equivalent to Cys-1570 of the amino acid sequence represented by UniProtKB:Q9NR09. UniProtKB:Q9NR09, Cys-1570, MOD:00660.


CD44 antigen isoform h3 (human)

A CD44 antigen (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P16070-3.


phanquinone

An orthoquinone that is the 5,6-diketo derivative of 4,7-phenanthroline.


NEROLIDIOL

A (6Z)-nerolidol in which the hydroxy group at positon 3 adopts an S-configuration.


A nerolidol in which the double bond at position 6 adopts a cis-configuration.


A (6Z)-nerolidol in which the hydroxy group at positon 3 adopts an R-configuration.


smoothib

An imidazopyrazole that is 1,6-dihydroimidazo[4,5-c]pyrazole substituted by 4-methylbenzyl and 4-{4-[3-(1H-indol-3-yl)propanoyl]piperazin-1-yl}phenyl groups at positions 1 and 5, respectively. It is a novel inhibitor of the Hedgehog signaling pathway.


cariprazine

An N-alkylpiperazine that is N,N-dimethyl-N'-{trans-4-[2-(piperazin-1-yl)ethyl]cyclohexyl}urea substituted at position 4 on the piperazine ring by a 2,3-dichlorophenyl group. Used (as the hydrochloride salt) for treatment of schizophrenia and bipolar disorder.


A member of the class of pyrimidines that is 5-methylpyrimidine-2,4-diamine in which the amino group at position 2 is substituted by a p-(4-methylpiperazin-1-yl)phenyl group, while that at position 4 is substituted by a m-(tert-butylsulfamoyl)phenyl group. A Janus kinase 2 (JAK2) inhibitor.


trans-Ned 19

A member of the class of beta-carbolines that is 2,3,4,9-tetrahydro-1H-beta-carboline-3-carboxylic acid in which one of the methylene protons at position 1 has been replaced by a 3-{[4-(2-fluorophenyl)piperazin-1-yl]methyl}-4-methoxyphenyl group.


DEXTROFLOXACINE

The (R)-enantiomer of ofloxacin.


name: 2-cyano-2-[3-(4-ethyl-1-piperazinyl)-2-quinoxalinyl]acetic acid cyclohexyl ester


Either of the two diastereoisomers of 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the imidazol-1-ylmethyl group and the aryloxymethyl group are in a cis relationship to each other - i.e. they are both on the same side of the plane of the dioxolane ring. The antifungal drug ketoconazole is a racemic mixture of the two cis diastereoisomers.


lurasidone

An N-arylpiperazine that is (3aR,4S,7R,7aS)-2-{[(1R,2R)-2-(piperazin-1-ylmethyl)cyclohexyl]methyl}hexahydro-1H-4,7-methanoisoindole-1,3(2H)-dione in which position N4 of the piperazine ring is substituted by a 1,2-benzothiazol-3-yl group. Lurasidone is used (generally as the hydrochloride salt) as an atypical antipsychotic for the treatment of schizophrenia.


Either of the two diastereoisomers of 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the imidazol-1-ylmethyl group and the aryloxymethyl group are in a trans relationship to each other - i.e. they are on opposite sides of the plane of the dioxolane ring. (N.B. The antifungal drug ketoconazole is a racemic mixture of the two cis diastereoisomers.)


(S)-GATIFLOXACIN

The (S)-enantiomer of gatifloxacin.


TANDUTINIB

An N-arylpiperazine that is piperazine in which the hydrogen attached to the nitrogen at position 1 is replaced by a 6-methoxy-7-[3-(piperidin-1-yl)propoxy]quinazolin-4-yl group, while the hydrogen attached to the nitrogen at position 4 is replaced by a (p-isopropoxyphenyl)aminocarbonyl group. Tandutinib is an inhibitor of tyrosine kinases FLT3, PDGFR and KIT.


aripiprazole lauroxil

A dodecanoate ester obtained by formal condensation of the carboxy group of dodecanoic acid with the hydroxy group of 7-{4-[4-(2,3-dichlorophenyl)piperazin-1-yl]butoxy}-2-oxo-3,4-dihydroquinolin-1(2H)-yl]methanol. A prodrug for aripiprazole, it is used for treatment of schizophrenia.


A 1-(4-{[2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)-4-isopropylpiperazine in which positions 2 and 4 of the 1,3-dioxolane moiety have S and R configuration, respectively.


difloxacin

A quinolone that is pefloxacin in which the ethyl group at position 1 of the quinolone has been replaced by a p-fluorophenyl group. A broad-spectrum antibiotic effective against both Gram-positive and Gram-negative bacteria, it is used (usually as the monohydrochloride salt) for the treatment of bacterial infections in dogs.


fexagratinib

A member of the class of  benzamides  that is a carboxamide resulting from the formal condensation of the carboxy group of 4-(cis-3,5-dimethylpiperazin-1-yl)benzoic acid with the amino substituent of 5-[2-(3,5-dimethoxyphenyl)ethyl]-1H-pyrazol-3-amine. It is an inhibitor of the fibroblast growth factor receptor (FGFR).


An imidazoquinoline that is 3-methyl-2-oxo-2,3-dihydro-1H-imidazo[4,5-c]quinoline substituted at position 1 by a 3-trifluoromethyl-4-(piperazin-1-yl)phenyl group and at position 8 by a 6-methoxypyridin-3-yl group. A dual PI3K/mTOR inhibitor.


name: 4-[4-methyl-6-(trifluoromethyl)-2-pyrimidinyl]-1-piperazinecarboxylic acid ethyl ester


An imidazoindole that is 9H-imidazo[1,2-a]indole which is substituted at positions 2, 3, 7, and 9 by cyano, amino, 4-methylpiperazin-1-yl, and oxo groups, respectively.


An N-alkylpiperazine that is 1-(3-chlorophenyl)piperazine carrying a 3,3-diphenyl-2-hydroxyprop-1-yl group at position 4. A selective h5-HT1D antagonist, displaying 60-fold selectivity over h5-HT1B, and exhibiting little or no affinity for a range of other receptor types.


A member of the class of imidazopyrimidines that is imidazo[1,2-a]pyrimidine substituted by a [4-(3,4-dichlorophenyl)piperazin-1-yl]acetyl group at position 3.


name: Benzoic acid, 4-[[4-(1h-indol-4-yl)-1-piperazinyl]methyl]-, 1,1-dimethylethyl ester


piperaquine

An aminoquinoline that is 1,3-di(piperazin-1-yl)propane in which the nitrogen at position 4 of each of the piperazine moieties is replaced by a 7-chloroquinolin-4-yl group.


A member of the class of indazoles that is 1-isopropyl-1H-indazole-4-carboxamide in which the nitrogen of the carboxamide group is substituted by a (6-methyl-2-oxo-4-propyl-1,2-dihydropyridin-3-yl)methyl group and in which the indazole ring is substituted at position 6 by a 2-(4-methylpiperazin-1-yl)pyridin-4-yl group. A highly potent and selective EZH2 inhibitor (IC50 = 4 nM).


levodropropizine

A member of the class of N-arylpiperazines that is N-phenylpiperazine in which the amino hydrogen is replaced by a 2,3-dihydroxypropyl group (the S-enantiomer). A peripherally acting antitussive drug that is used as an alternative to opioids.


name: 2-[[4-(2-thiophen-2-yl-4-quinazolinyl)-1-piperazinyl]sulfonyl]benzoic acid ethyl ester


A 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the dioxolane ring has R configuration at positions 2 and 4.


A member of the class of quinolines that is quinoline substituted by a 6-[4-(piperazin-1-yl)phenyl]pyrazolo[1,5-a]pyrimidin-3-yl group at position 5. It is a potent ALK inhibitor (IC50 values of 2.4, 1.3, 85.8, 2,133 and 9,276 nM for ALK1, ALK2, ALK3, ALK4 and ALK5, respectively).


A member of the clas of purines that is 9H-purine substituted by 3,4-dimethoxyphenyl, aminocarbonyl, and 4-(4-methylpiperazin-1-yl)-3-nitrophenyl groups at positions 2, 6 and 9, respectively. It is an inhibitor of EGFR and a potential anticancer agent.


(R)-GATIFLOXACIN

The (R)-enantiomer of gatifloxacin.


A pyrroloquinoxaline that is pyrrolo[1,2-a]quinoxaline bearing additional 4-methylpiperazin-1-yl and trifluoromethyl substituents at positions 4 and 7 respectively. A 5-hydroxytryptamine receptor 1B (5-HT1B) full agonist, 10-fold selective over 5-HT1A and 1000-fold selective over 5-HT2C receptors. Centrally active following systemic administration.


name: PDGF receptor tyrosine kinase inhibitor III

description: An N-arylpiperazine that is piperazine in which the hydrogen attached to the nitrogen at position 1 is replaced by a (4-phenoxyphenyl)aminocarbonyl group, while the hydrogen attached to the nitrogen at position 4 is replaced by a 6,7-dimethoxyquinazolin-4-yl group. It is an inhibitor of tyrosine kinases FLT3, PDGFR and KIT.


sulfociprofloxacin

An organosulfonic acid that is ciprofloxacin  carrying a sulfo group at position 4 of the piperazine ring. It is a metabolite of ciprofloxacin.


(S)-TEMAFLOXACIN

1-(2,4-difluorophenyl)-6-fluoro-7-(3-methylpiperazin-1-yl)-4-oxo-1,4-dihydroquinoline-3-carboxylic acid that has R configuration.


(S)-temafloxacin

1-(2,4-difluorophenyl)-6-fluoro-7-(3-methylpiperazin-1-yl)-4-oxo-1,4-dihydroquinoline-3-carboxylic acid that has S configuration.


N-methylquipazine

An aminoquinoline that consists of quinoline in which the hydrogen at position 2 is substituted by a 4-methylpiperazin-1-yl group. A 5-HT3 agonist. Has almost the same affinity for 5-HT3 sites as quipazine but unlike the latter, does not bind to 5-HT1B sites.


A benzamide obtained by formal condensation of the carboxy group of 4-fluorobenzoic acid with the primary amino group of 2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethylamine. Highly potent selective 5-HT1A receptor full agonist (pKi values are 9.0, 6.6, 7.5, 6.6 and < 6.0 for 5-HT1A, 5-HT1B, 5-HT1C, 5-HT2 and 5-HT3 receptors respectively). Possibly binds between the agonist binding site and the G protein interaction switch site, affecting the activation mechanism, and may display positive cooperativity. Anxiolytic following central administration in vivo.


dasatinib

An aminopyrimidine that is 2-methylpyrimidine which is substituted at position 4 by the primary amino group of 2-amino-1,3-thiazole-5-carboxylic acid and at position 6 by a 4-(2-hydroxyethyl)piperazin-1-yl group, and in which the carboxylic acid group has been formally condensed with 2-chloro-6-methylaniline to afford the corresponding amide. A multi-targeted kinase inhibitor, it is used, particularly as the monohydrate, for the treatment of chronic, accelerated, or myeloid or lymphoid blast phase chronic myeloid leukemia. Note that the name 'dasatinib' is used to refer to the monohydrate (USAN) as well as to anhydrous dasatinib (INN).


A member of the class of phenylureas that is a potent inhibitor of salt-inducible kinase 2, a potential target protein for therapy in ovarian cancer.


A member of the class of benzoic acids that is benzoic acid in which the hydrogen at position 2 has been replaced by  a 5-amino-4-cyano-1H-imidazol-1-yl group while the hydrogen at position 5 has been replaced by a 4-methylpiperazin-1-yl group.


flibanserin

An N-alkylpiperazine that is 1-[2-(1,3-dihydro-2-oxobenzimidazol-1-yl)ethyl]piperazine in which the remaining amino proton is replaced by a 3-(trifluoromethyl)phenyl group. A multifunctional serotonin agonist and antagonist which is used for the treatment of pre-menopausal women with hypoactive sexual desire disorder.


terconazole

A dioxolane that is 1,3-dioxolane which is substituted at positions 2, 2, and 4 by 2,4-dichlorophenyl, 1H-1,2,4-triazol-1-ylmethyl, and [4-(4-isopropylpiperazin-1-yl)phenoxy]methyl groups, respectively.


An aromatic amide obtained by formal condensation of the amino group of 2-(6-methoxy-1-oxo-1,3-dihydro-2H-isoindol-2-yl)-1,3-thiazole-4-carboxylic acid with the primary amino group of 4-(piperazin-1-yl)pyridin-3-amine.


A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2R,4S)-configuration.


name: 2-cyano-2-[3-[4-(phenylmethyl)-1-piperazinyl]-2-quinoxalinyl]acetic acid 2-methoxyethyl ester


compound 31 [PMID: 24809814]

A member of the class of piperazines that is (R)-2-methylpiperazine in which the two amino hydrogens at positions 1 and 4 are replaced by 5-cyanopyridin-2-yl and 4-benzyl-7-chlorophthalazin-1-yl groups respectively.


vilazodone

A 1-benzofuran that is 5-(piperazin-1-yl}-1-benzofuran-2-carboxamide having a (5-cyanoindol-3-yl)butyl group attached at position N-4 on the piperazine ring. Used for the treatment of major depressive disorder.


A 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the dioxolane ring has S configuration at positions 2 and 4.


LY 165,163

A N-arylpiperazine that is piperazine substituted by 2-(4-aminophenyl)ethyl and 3-(trifluoromethyl)phenyl groups at positions 1 and 4, respectively. It is a selective 5-HT1A serotonin receptor agonist and 5-HT1D serotonin receptor antagonist.


SDZ 35-682

An aromatic ether that consists of glycerol in which the hydrogen of the 1-hydroxy group is substituted by a 4-cyclohexylphenyl moiety and the 3-hydroxy function is substituted by a 4-(pyridin-2-yl)piperazin-1-yl group.


metabolite of ciprofloxacin


A secondary carboxamide resulting from the formal condensation of the carboxy group of 5-cyano-2'-{4-[2-(3-methyl-1H-indol-1-yl)ethyl]piperazin-1-yl}[biphenyl]-3-carboxylic acid with the amino group of 3-(pyrrolidin-1-yl)propan-1-amine. It is a potent and selective inhibitor of SMYD2 and inhibits the ability of SMYD2 to methylate p53. It serves as a valuable chemical probe to aid in the dissection of SMYD2 function in cancer and other biological processes.


levoketoconazole

A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2S,4R)-configuration.


name: SID1 transmembrane family member 2 isoform 1 (mouse)

description: A SID1 transmembrane family member 2 isoform 1 that is encoded in the genome of mouse.


name: SIDT2_MOUSE SID1 transmembrane family member 2 (sprot)

description: A SID1 transmembrane family member 2 that is encoded in the genome of mouse.


name: SID1 transmembrane family member 2 isoform m2 (mouse)

description: A SID1 transmembrane family member 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8CIF6-2.


name: E3 ubiquitin-protein ligase Mdm2 phosphorylated 2 (human)

description: An E3 ubiquitin-protein ligase Mdm2 (human) that has been post-translationally modified to include phosphoserine at positions 166 and 188 of the amino acid sequence represented by UniProtKB:Q00987. UniProtKB:Q00987, Ser-166/Ser-188, MOD:00046.


name: small conductance calcium-activated potassium channel protein 1 isoform III (mouse)

description: A small conductance calcium-activated potassium channel protein 1 isoform III that is encoded in the genome of mouse.


name: small conductance calcium-activated potassium channel protein 1 isoform III

description: A small conductance calcium-activated potassium channel protein 1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9EQR3-8 or a 1:1 ortholog thereof.


isobutyryl-CoA dehydrogenase deficiency

description: An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).


sulfhydryl oxidase 1 isoform r2 (rat)

A sulfhydryl oxidase 1 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6IUU3-2.


QSOX1_RAT Sulfhydryl oxidase 1 (sprot)

A sulfhydryl oxidase 1 that is encoded in the genome of rat.


sulfhydryl oxidase 1 isoform r1 (rat)

A sulfhydryl oxidase 1 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6IUU3-1.


sulfhydryl oxidase 1 isoform r3 (rat)

A sulfhydryl oxidase 1 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6IUU3-3.


name: CC85A_MOUSE Coiled-coil domain-containing protein 85A (sprot)

description: A coiled-coil domain-containing protein 85A that is encoded in the genome of mouse.


name: coiled-coil domain-containing protein 85A isoform m2 (mouse)

description: A coiled-coil domain-containing protein 85A (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5SP85-2.


name: coiled-coil domain-containing protein 85A isoform m3 (mouse)

description: A coiled-coil domain-containing protein 85A (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5SP85-3.


name: coiled-coil domain-containing protein 85A isoform m1 (mouse)

description: A coiled-coil domain-containing protein 85A (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5SP85-1.


name: Memory Deficit following Other Cerebrovascular Disease

description: Evidence of memory deficit following other cerebrovascular disease.


name: feline large granular lymphocyte lymphoma

description: A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat.


name: TVA29_HUMAN T cell receptor alpha variable 29/delta variable 5 (sprot)

description: A T cell receptor alpha variable 29/delta variable 5 that is encoded in the genome of human.


name: T cell receptor alpha variable 29/delta variable 5, signal peptide removed form (human)

description: A T cell receptor alpha variable 29/delta variable 5 (human) that has had the signal peptide removed. UniProtKB:P04437, 22-119.


NAD kinase isoform h3 (human)

An NAD kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95544-3.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as lauroyl (dodecanoyl).


diacylglycerol 24:0

Any diglyceride that is glycerol in which any two of the hydroxy groups have been acylated by saturated fatty acids which together contain a total of 24 carbon atoms.


didodecanoylglycerol

A diglyceride that is glycerol in which any two of the hydroxy groups have undergone formal esterification by condensation with dodecanoic (lauric) acid. Formula C27H52O5. For the structure shown, either R1 = H and R2 = dodecanoyl or R1 = dodecanoyl and R2 = H.


name: UBIV_ECOLI Ubiquinone biosynthesis protein UbiV (sprot)

description: A ubiquinone biosynthesis protein UbiV that is encoded in the genome of Escherichia coli K-12.


ubiquinone biosynthesis protein UbiV

A protein that is a translation product of the Escherichia coli K-12 yhbV gene or a 1:1 ortholog thereof.


name: DNA-binding protein SATB2 isoform h2 (human)

description: A DNA-binding protein SATB2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UPW6-2.


name: SATB2_HUMAN DNA-binding protein SATB2 (sprot)

description: A DNA-binding protein SATB2 that is encoded in the genome of human.


name: DNA-binding protein SATB2 deaminated 1 (human)

description: A DNA-binding protein SATB2 (human) that has been deaminated on the residue at the position equivalent to Gln-301 of the amino acid sequence represented by UniProtKB:Q9UPW6-1. Example: UniProtKB:Q9UPW6-1, Gln-301, MOD:00685.


name: DNA-binding protein SATB2 isoform 1 (human)

description: A DNA-binding protein SATB2 isoform 1 that is encoded in the genome of human.


name: DNA-binding protein SATB2 sumoylated 1 (human)

description: A DNA-binding protein SATB2 (human) that has been sumoylated on the residues at the positions equivalent to Lys-233 and Lys-350 of the amino acid sequence represented by UniProtKB:Q9UPW6-1. Example: UniProtKB:Q9UPW6-1, Lys-233/Lys-350, MOD:01149.


Metastatic rectal adenocarcinoma

description: An adenocarcinoma that arises from the rectum and has metastasized to another anatomic site.


name: Locally Advanced Unresectable Rectal Adenocarcinoma

description: A rectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Rectal Adenocarcinoma

description: Rectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: NUAK family SNF1-like kinase 2 isoform r1 (rat)

description: A NUAK family SNF1-like kinase 2 (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q66HE5-1.


BCOR-CCNB3 sarcoma

description: A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene.


name: Set1/Ash2 histone methyltransferase complex subunit ASH2 isoform C (fruit fly)

description: A Set1/Ash2 histone methyltransferase complex subunit ASH2 (fruit fly) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q94545-1.


name: Unspecified B-Cell Lymphoma, Lymph Nodes of Multiple Sites

description: Evidence of unspecified B-cell lymphoma in the lymph nodes of multiple sites.


ANO2_MOUSE Anoctamin-2 (sprot)

An anoctamin-2 that is encoded in the genome of mouse.


name: nonsense-mediated mRNA decay factor SMG7 isoform m1 (mouse)

description: A nonsense-mediated mRNA decay factor SMG7 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5RJH6-1.


name: influenza virus NS1A-binding protein methylated 3 (human)

description: An influenza virus NS1A-binding protein (human) that has been methylated on the residue at the position equivalent to Cys-134 of the amino acid sequence represented by UniProtKB:Q9Y6Y0. UniProtKB:Q9Y6Y0, Cys-134, MOD:00660.


Alcohol Intolerance

description: Increased sensitivity to the adverse effects of alcohol, which can include nasal congestion, skin flushes, heart dysrhythmias, nausea, vomiting, indigestion and headaches.


name: general vesicular transport factor p115 deaminated 3 (human)

description: A general vesicular transport factor p115 (human) that has been deaminated on the residue at the position equivalent to Asn-184 of the amino acid sequence represented by UniProtKB:O60763-1. Example: UniProtKB:O60763-1, Asn-184, MOD:00684.


name: Other Specified Diabetes Mellitus with Hyperglycemia

description: Evidence of other specified diabetes mellitus with hyperglycemia not specified elsewhere.


name: THIM_STAA8 Hydroxyethylthiazole kinase (sprot)

description: A hydroxyethylthiazole kinase that is encoded in the genome of Staphylococcus aureus subsp. aureus NCTC 8325.


name: stromal membrane-associated protein 1 isoform h2 (human)

description: A stromal membrane-associated protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IYB5-2.


name: probable deoxycholate-binding periplasmic protein YgiS

description: A protein that is a translation product of the Escherichia coli K-12 ygiS gene or a 1:1 ortholog thereof.


name: YGIS_ECOLI Probable deoxycholate-binding periplasmic protein YgiS (sprot)

description: A probable deoxycholate-binding periplasmic protein YgiS that is encoded in the genome of Escherichia coli K-12.


name: mixed phenotype acute leukemia with BCR-ABL1

description: An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.


name: Acute Leukemia of Ambiguous Lineage with Defining Genetic Abnormalities

description: Acute leukemia of ambiguous lineage characterized by the presence of defined genetic alterations.


name: mixed phenotype acute leukemia with t(v;11q23.3)

description: A rare mixed phenotype acute leukemia in which the blasts carry a translocation between the KMT2A gene at 11q23.3 and another gene partner. The prognosis is usually unfavorable.


name: Acute Leukemia of Ambiguous Lineage with BCL11B Rearrangement

description: A rare acute leukemia of ambiguous lineage characterized by the presence of BCL11B gene rearrangement.


name: YCVC_SCHPO Uncharacterized protein C777.12c (sprot)

description: A protein that is a translation product of the SPCC777.12c gene in Schizosaccharomyces pombe 972h-.


name: medium chain 3-ketoacyl-Coa thiolase deficiency


name: BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome

description: An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 gene. Patients are at high risk of developing breast cancer, ovarian cancer, and other cancers including cervical, endometrial, fallopian tube, and colon cancer.


2-dehydro-3-deoxy-D-galactonic acid

The 2-dehydro-3-deoxy derivative of D-galactonic acid.


name: MYPC2_HUMAN Myosin-binding protein C, fast-type (sprot)

description: A myosin-binding protein C, fast-type that is encoded in the genome of human.


A 7alpha-hydroxy steroid that is 17beta-estradiol substituted by an alpha-hydroxy group at position 7.


name: RL22A_YEAST Large ribosomal subunit protein eL22A (sprot)

description: A protein that is a translation product of the RPL22A gene in yeast.


name: PUM1-associated developmental disability-ataxia-seizure syndrome


name: developmental and epileptic encephalopathy, 2

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.


name: spastic paraplegia-severe developmental delay-epilepsy syndrome

description: Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.


name: infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

description: A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.


name: focal epilepsy-intellectual disability-cerebro-cerebellar malformation

description: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.


name: Mowat-Wilson syndrome due to a ZEB2 point mutation


name: autosomal recessive spinocerebellar ataxia 15

description: Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.


Rett syndrome, congenital variant

description: An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life.


name: X-linked dominant intellectual disability-epilepsy syndrome


name: Mowat-Wilson syndrome due to monosomy 2q22


FOXG1 disorder

description: A monogenic disease that has material basis in mutation in the FOXG1 gene.


name: developmental and epileptic encephalopathy, 8


name: developmental and epileptic encephalopathy, 9

description: Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.


name: syndromic X-linked intellectual disability Hedera type

description: X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.


name: autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome


name: intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

description: IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).


name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant

description: Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.


name: epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

description: An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).


name: severe neonatal-onset encephalopathy with microcephaly

description: An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.


name: X-linked intellectual disability-epilepsy syndrome


name: epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features


name: epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features


name: neonatal-onset encephalopathy with rigidity and seizures


name: autosomal recessive spinocerebellar ataxia 12

description: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.


Mowat-Wilson syndrome

description: Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.


name: global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome


name: FOXG1 syndrome due to intragenic alteration


name: spinocerebellar ataxia, autosomal recessive 23


name: developmental and epileptic encephalopathy, 23


name: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

description: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).


name: polyhydramnios, megalencephaly, and symptomatic epilepsy


name: developmental and epileptic encephalopathy, 73


protein Wnt-10a methylated 1 (human)

A protein Wnt-10a (human) that has been methylated on the residue at the position equivalent to Cys-416 of the amino acid sequence represented by UniProtKB:Q9GZT5. UniProtKB:Q9GZT5, Cys-416, MOD:00660.


GPN-loop GTPase 1 isoform h4 (human)

A GPN-loop GTPase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HCN4-4.


KICH_SCHPO Choline kinase (sprot)

A choline/ethanolamine kinase that is encoded in the genome of Schizosaccharomyces pombe 972h-.


Glioblastoma Necrosis Grade I by MRI

description: Glioblastoma with amount of necrosis less than 25 percent on MRI.


name: YLHA_CAEEL Uncharacterized protein C48B4.11 (sprot)

description: A protein that is a translation product of the C48B4.11 gene in worm.


kelch-like protein 17 isoform 1 (rat)

A kelch-like protein 17 isoform 1 that is encoded in the genome of rat.


kelch-like protein 17 isoform 1

A kelch-like protein 17 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6TDP3-1 or a 1:1 ortholog thereof.


kelch-like protein 17 isoform 1 (mouse)

A kelch-like protein 17 isoform 1 that is encoded in the genome of mouse.


name: cell adhesion molecule 1 isoform 1 (mouse)

description: A cell adhesion molecule 1 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8R5M8-1.


name: YI102_YEAST Uncharacterized protein YIL102C-A (sprot)

description: A protein that is a translation product of the YIL102C-A gene in yeast.


name: DF285_ARATH Defensin-like protein 285 (sprot)

description: A protein that is a translation product of the At5g44973 gene in Arabidopsis thaliana.


name: ATP9_DICDI ATP synthase subunit 9, mitochondrial (sprot)

description: A protein that is a translation product of the atp9 gene in Dictyostelium discoideum.


name: basic helix-loop-helix ARNT-like protein 2 isoform m2 (mouse)

description: A basic helix-loop-helix ARNT-like protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2VPD4-2.


name: BMAL2_MOUSE Basic helix-loop-helix ARNT-like protein 2 (sprot)

description: A basic helix-loop-helix ARNT-like protein 2 that is encoded in the genome of mouse.


name: basic helix-loop-helix ARNT-like protein 2 isoform m1 (mouse)

description: A basic helix-loop-helix ARNT-like protein 2 (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q2VPD4-1.


name: serine/threonine-protein kinase SMG1 phosphorylated 2 (human)

description: A serine/threonine-protein kinase SMG1 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-662 of the amino acid sequence represented by UniProtKB:Q96Q15-1. Example: UniProtKB:Q96Q15-1, Tyr-662, MOD:00048.


name: apolipoprotein B-100 deaminated 21 (human)

description: An apolipoprotein B-100 (human) that has been deaminated on the residue at the position equivalent to Gln-2263 of the amino acid sequence represented by UniProtKB:P04114. UniProtKB:P04114, Gln-2263, MOD:00685.


name: ZFR2_HUMAN Zinc finger RNA-binding protein 2 (sprot)

description: A zinc finger RNA-binding protein 2 that is encoded in the genome of human.


name: zinc finger RNA-binding protein 2 deaminated 1 (human)

description: A zinc finger RNA-binding protein 2 (human) that has been deaminated on the residue at the position equivalent to Gln-564 of the amino acid sequence represented by UniProtKB:Q9UPR6-1. Example: UniProtKB:Q9UPR6-1, Gln-564, MOD:00685.


name: zinc finger RNA-binding protein 2 isoform h2 (human)

description: A zinc finger RNA-binding protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UPR6-2.


name: zinc finger RNA-binding protein 2 isoform h3 (human)

description: A zinc finger RNA-binding protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UPR6-3.


name: zinc finger RNA-binding protein 2 isoform h1 (human)

description: A zinc finger RNA-binding protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UPR6-1.


name: presenilin-1 sequence variant I143M (human)

description: A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:16044.


presenilin-1 sequence variant (human)

A presenilin-1 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-1 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-1 (human). Operationally, this means the sequence representation of the presenilin-1 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by UniProtKB:P49768-1.


name: presenilin-1 sequence variant A246E (human)

description: A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-246 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-246, CHEBI:29972.


name: presenilin-1 sequence variant G209V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:30015.


name: presenilin-1 sequence variant M233L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30006.


name: presenilin-1 sequence variant L171P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-171 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-171, CHEBI:50342.


name: presenilin-1 sequence variant N135D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:29958.


name: presenilin-1 sequence variant E184G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-184 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-184, CHEBI:29947.


name: presenilin-1 sequence variant L424F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29997.


name: presenilin-1 sequence variant L173W (human)

description: A presenilin-1 sequence variant (human) that has a Trp residue at the position equivalent to Leu-173 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-173, CHEBI:29954.


name: presenilin-1 sequence variant L286P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-286, CHEBI:50342.


name: presenilin-1 sequence variant F205L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-205 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-205, CHEBI:30006.


name: presenilin-1 sequence variant L262V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-262 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-262, CHEBI:30015.


name: presenilin-1 sequence variant A79V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-79 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-79, CHEBI:30015.


name: presenilin-1 sequence variant M233V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30015.


name: presenilin-1 sequence variant F176L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-176 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-176, CHEBI:30006.


name: presenilin-1 sequence variant V412I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Val-412 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-412, CHEBI:30009.


name: presenilin-1 sequence variant D333G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Asp-333 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asp-333, CHEBI:29947.


name: presenilin-1 sequence variant R220P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Arg-220 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-220, CHEBI:50342.


name: presenilin-1 sequence variant A260V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-260 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-260, CHEBI:30015.


name: presenilin-1 sequence variant W165C (human)

description: A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Trp-165 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Trp-165, CHEBI:29950.


name: presenilin-1 sequence variant R269G (human)

description: A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Arg-269 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-269, CHEBI:29947.


name: presenilin-1 sequence variant I167del (human)

description: A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ile-167 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-166, 168-467.


name: presenilin-1 sequence variant G206D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:29958.


name: presenilin-1 sequence variant L219R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29952.


name: presenilin-1 sequence variant L166del (human)

description: A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-165, 167-467.


name: presenilin-1 sequence variant Y154C (human)

description: A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-154 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-154, CHEBI:29950.


name: presenilin-1 sequence variant R377W (human)

description: A presenilin-1 sequence variant (human) that has a Trp residue at the position equivalent to Arg-377 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-377, CHEBI:29954.


name: presenilin-1 sequence variant C263R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Cys-263 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-263, CHEBI:29952.


name: presenilin-1 sequence variant S230R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Ser-230 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-230, CHEBI:29952.


name: presenilin-1 sequence variant A231T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:30013.


name: presenilin-1 sequence variant A434T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-434 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-434, CHEBI:30013.


name: presenilin-1 sequence variant R278S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:29999.


name: presenilin-1 sequence variant T245P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-245 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-245, CHEBI:50342.


name: presenilin-1 sequence variant G217D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Gly-217 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-217, CHEBI:29958.


name: presenilin-1 sequence variant L219P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:50342.


name: presenilin-1 sequence variant E184D (human)

description: A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-184 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-184, CHEBI:29958.


name: presenilin-1 sequence variant T354I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-354 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-354, CHEBI:30009.


name: presenilin-1 sequence variant H163P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:50342.


name: presenilin-1 sequence variant N135S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:29999.


name: presenilin-1 sequence variant R358Q (human)

description: A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-358 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-358, CHEBI:30011.


name: presenilin-1 sequence variant V272A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Val-272 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-272, CHEBI:46217.


name: presenilin-1 sequence variant T116R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:29952.


name: presenilin-1 sequence variant I143N (human)

description: A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:50347.


name: presenilin-1 sequence variant G206V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:30015.


name: presenilin-1 sequence variant F175S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-175 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-175, CHEBI:29999.


name: presenilin-1 sequence variant R278T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:30013.


name: presenilin-1 sequence variant H131R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-131 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-131, CHEBI:29952.


name: presenilin-1 sequence variant A434C (human)

description: A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Ala-434 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-434, CHEBI:29950.


name: presenilin-1 sequence variant I202F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-202 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-202, CHEBI:29997.


name: presenilin-1 sequence variant E280A (human)

description: A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:46217.


name: presenilin-1 sequence variant F105L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30006.


name: presenilin-1 sequence variant A164V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-164 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-164, CHEBI:30015.


name: presenilin-1 sequence variant V261L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-261 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-261, CHEBI:30006.


name: presenilin-1 sequence variant E123K (human)

description: A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-123 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-123, CHEBI:29967.


name: presenilin-1 sequence variant V82L (human)

description: A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-82 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-82, CHEBI:30006.


name: presenilin-1 sequence variant R269H (human)

description: A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Arg-269 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-269, CHEBI:29979.


name: presenilin-1 sequence variant L424H (human)

description: A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29979.


name: presenilin-1 sequence variant F105I (human)

description: A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30009.


name: presenilin-1 sequence variant I143T (human)

description: A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:30013.


name: presenilin-1 sequence variant S169P (human)

description: A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-169, CHEBI:50342.


name: presenilin-1 sequence variant H163R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:29952.


name: presenilin-1 sequence variant L174M (human)

description: A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:16044.


name: presenilin-1 sequence variant I439S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Ile-439 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-439, CHEBI:29999.


name: presenilin-1 sequence variant G266S (human)

description: A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Gly-266 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-266, CHEBI:29999.


name: presenilin-1 sequence variant I143F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:29997.


name: presenilin-1 sequence variant L166V (human)

description: A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:30015.


name: presenilin-1 sequence variant S170F (human)

description: A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ser-170 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-170, CHEBI:29997.


name: presenilin-1 sequence variant L166R (human)

description: A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:29952.