Rare Diseases: Models & Mechanisms Network

Profile

Roth, Frederick

Basic Information

First Name
Last Name
Organization
Department
Website http://llama.mshri.on.ca

Contact Information

Email fritz.roth@utoronto.ca

About My Research

Human Organ Systems

Cardiovascular system
Nervous system
Respiratory system
Blood
Genitourinary system

Human Cell Models Research Focus

We are developing functional assays for human genetic variants. The assays include: a) functional complementation testing where the human gene complements a yeast mutant, and b) interaction testing where key interactions can be assayed by the yeast two-hybrid method

Gene ID Symbol Name Tier
5713 PSMD7 proteasome 26S subunit, non-ATPase 7 TIER2
7390 UROS uroporphyrinogen III synthase TIER1
10436 EMG1 EMG1 N1-specific pseudouridine methyltransferase TIER2
875 CBS cystathionine beta-synthase TIER1
4524 MTHFR methylenetetrahydrofolate reductase TIER1
1719 DHFR dihydrofolate reductase TIER2
4598 MVK mevalonate kinase TIER1
4023 LPL lipoprotein lipase TIER1
808 CALM3 calmodulin 3 TIER1
11200 CHEK2 checkpoint kinase 2 TIER1
255738 PCSK9 proprotein convertase subtilisin/kexin type 9 TIER1
55651 NHP2 NHP2 ribonucleoprotein TIER2
2752 GLUL glutamate-ammonia ligase TIER2
3145 HMBS hydroxymethylbilane synthase TIER1
6794 STK11 serine/threonine kinase 11 TIER1
5230 PGK1 phosphoglycerate kinase 1 TIER2
4000 LMNA lamin A/C TIER1
3156 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase TIER1
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 TIER2
7341 SUMO1 small ubiquitin like modifier 1 TIER1
7454 WAS WASP actin nucleation promoting factor TIER1
5265 SERPINA1 serpin family A member 1 TIER1
23413 NCS1 neuronal calcium sensor 1 TIER1
50814 NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL TIER1
27010 TPK1 thiamin pyrophosphokinase 1 TIER1
6647 SOD1 superoxide dismutase 1 TIER1
7428 VHL von Hippel-Lindau tumor suppressor TIER1
540 ATP7B ATPase copper transporting beta TIER1
9524 TECR trans-2,3-enoyl-CoA reductase TIER1
5313 PKLR pyruvate kinase L/R TIER2
9945 GFPT2 glutamine--fructose-6-phosphate transaminase 2 TIER2
1371 CPOX coproporphyrinogen oxidase TIER1
2664 GDI1 GDP dissociation inhibitor 1 TIER1
8565 YARS1 tyrosyl-tRNA synthetase 1 TIER1
5300 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 TIER2
5428 POLG DNA polymerase gamma, catalytic subunit TIER1
26119 LDLRAP1 low density lipoprotein receptor adaptor protein 1 TIER1
805 CALM2 calmodulin 2 TIER1
189 AGXT alanine--glyoxylate aminotransferase TIER1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit TIER2
7329 UBE2I ubiquitin conjugating enzyme E2 I TIER1
4040 LRP6 LDL receptor related protein 6 TIER1
2645 GCK glucokinase TIER1
2222 FDFT1 farnesyl-diphosphate farnesyltransferase 1 TIER2
801 CALM1 calmodulin 1 TIER1
6908 TBP TATA-box binding protein TIER2
22934 RPIA ribose 5-phosphate isomerase A TIER2
5498 PPOX protoporphyrinogen oxidase TIER1
51727 CMPK1 cytidine/uridine monophosphate kinase 1 TIER2
326 AIRE autoimmune regulator TIER1
3949 LDLR low density lipoprotein receptor TIER1
Term Name Aspect Overlap Size