Spreadsheet: b803e447-f0e5-4201-b358-83dc327e6f29
Sheet: Sheet1

Disease symptoms of selected modules | Unnamed: 1 | Unnamed: 2 | Unnamed: 3 | Unnamed: 4 | Unnamed: 5
Data obtained from OMIM: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
Columns:
A) Yeast systematic ORF name (SGD); when multiple are listed all are orthologs to the same human gene
B) Yeast standard gene name (SGD)
C) HUGO human gene name
D) OMIM human gene identifier
E) Summary of the clinical manifestations
Note: a yeast gene can be orthologous to multiple human genes, here only the disease ortholog is indicated
A | B | C | D | E
Yeast systematic name (ORF) | Yeast standard name | HUGO | OMIM | Clinical manifestations
NAD metabolism/TCA cycle
YOR356W | YOR356W | ETFDH | 231675 | Glutaricaciduria IIC | Glutaricaciduria II, also known as Multiple acyl-CoA dehydrogenation deficiency (MADD): neonatal-onset form with congenital anomalies (typeI), without congenital anomalies (typeII), both are usually fatal characterized by severe nonketotic hypoglicemia, metabolic acidosis, excretion of large amount of fatty-acid and amino acid-derived metabolites; a late-onset form (typeIII) with lethargy, vomiting, hypoglycemia, metabolic acidosis, hepatomegaly. Unifying symptomes: large excretion of various acids in blood and urine, hypoglycemia, respiratory distress, muscular hypotonia, sweaty feet odor, hepatomegaly, free fatty acid accumulation.
YGR207C | YGR207C | ETFB | 130410 | [NAME]
YPR004C | YPR004C | ETFA | 608053 | Glutaricaciduria IIA
YPL262W | FUM1 | FH | 136850 | Fumarase deficiency (FD): progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia. Multiple cutaneous and uterine leiomyomata (MCUL1): autosomal dominant condition in which affected individuals develop benign smooth muscle tumors (leiomyomata) of the skin; affected females also usually develop leiomyomata of the uterus (fibroids). Hereditary leiomyomatosis and renal cell cancer (HLRCC).
Pyruvate/α-ketoglutarate dehydrogenase
YBR208C | DUR1,2 | MCCC1 | 609010 | 3-methylcrotonylglycinuria type I (MCGI): neurological defect characterized by muscular hypotonia and atrophy, excess urinary excretion of abnormal metabolites and hypoglycemia.
YBR221C | PDB1 | PDHB | 179060 | Pyruvate dehydrogenase E1 component deficiency ([NAME] deficiency): seizures, hyperventilation, episodic [NAME], chorioathetosis.
YNL071W | LAT1 | DLAT | 608770 | Primary biliary cirrhosis.
YER178W | PDA1 | PDHA1 | 300502 | Pyruvate dehydrogenase E1 component deficiency ([NAME] deficiency): seizures, hyperventilation, [NAME], chorioathetosis, neonatal death to prolonged survival complicated by developmental delay, seizures, ataxia, apnea; X-linked form of Leigh syndrome (Leigh's encephalomyelopathy).
YFL018C | LPD1 | DLD | 238331 | DLD (Lipoamide dehydrogenase deficiency)  deficiency: recurrent vomiting and  abdominal pain, hypothermia, motor retardation, myoglobinuria; [NAME]  typeIII (MSUD3): developmental delay, hypotonia, metabolic acidosis, neonatal hypoglycemia (some symptomes are consistent with Leigh syndrome).
Respiratory chain complex II (RCC-II)
YKL148C, YJL045W | SDH1, YJL045W | SDHA | 600857 | Complex II mitochondrial respiratory chain deficiency also known as succinate CoQ reductase deficiency. Defects of oxidative phosphorylation give rise to heterogeneous clinical symptoms ranging from isolated organ dysfunction to multisystem disorder. A deficiency of complex II represents a rare cause of mitochondrial encephalomyopathy, leukodystrophy, late-onset optic atrophy and ataxia, myopathy with exercise intolerance, and isolated cardiomyopathy. Leigh syndrome (LS). LS is a severe disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.
YLL041C | [NAME] | SDHB | 185470 | Susceptibility to Hereditary Pheochromocytoma, Paraganglioma and renal cell carcinoma.
YKL141W,YMR118C | SDH3, YMR118C | SDHC | 602413 | Autosomal dominant non-chromaffin paragangliomas type 3 ([NAME]), non-chromaffin paragangliomas are usually benign, neural crest derived tumors of parasympathetic ganglia. [NAME], malignant catecholamine-producing.
[NAME], YLR164W | SDH4, YLR164W | SDHD | 602690 | Hereditary paraganglioma type 1 (PGL1) also known as familial nonchromaffin paraganglioma 1. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slow growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors. Penetrance of PLG1 is incomplete when the disease is transmitted through fathers. No disease phenotype is transmetted maternally.  Pheochromocytoma: the pheochromocytomas are catecholamine-producing, chromaffin tumors that arise in the adrenal medulla in 90% of cases. In the remaining 10% of cases, they develop in extra-adrenal sympathetic ganglia and may be referred to as "paraganglioma." Pheochromocytoma usually presents with hypertension. Approximately 10% of pheochromocytoma is hereditary.  Intestinal carcinoid tumor. A carcinoid tumor is a yellow circumscribed tumor arising from enterochromaffin cells, in the small intestine.
Heme biosynthesis
YDR044W | HEM13 | CPOX | 121300 | Hereditary coproporphyria (HCP). HCP is an acute hepatic porphyria and an autosomal dominant disease characterized by neuropsychiatric disturbances and skin photosensitivity. Biochemically, there is an overexcretion of coproporphyrin III in the urine and in the feces. HCP is clinically characterized by attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. The symptoms are generally manifested with rapid onset, and can be precipitated by drugs, alcohol, caloric deprivation, infection, endocrine factors or stress. A severe variant form is harderoporphyria, which is characterized by earlier onset attacks, massive excretion of harderoporphyrin in the feces, and a marked decrease of coproporphyrinogen IX oxidase activity.
YER014W | HEM14 | PPOX | 600923 | Porphyria variegata (VP): it is characterized by skin hyperpigmentation and hair hypertrichosis, associated with acute attacks, like those of acute intermittent porphyria.
YOR176W | HEM15 | FECH | 177000 | Erythropoietic protoporphyria (epp): dominantly inherited disease of porphyrin metabolism. Depending on the mutation, it can sometimes be recessive. The clinical manifestations are photosensitivity and hepatobiliary disease.
Folate and glycine metabolism
YGL125W | MET13 | MTHFR | 607093 | Homocystinuria due to deficiency of methylenetetrahydrofolate reductase activity. This form of homocystinuria is autosomal recessive and shows a wide range of clinical symptoms, such as developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. Genetic variation in MTHFR influences susceptibility to occlusive vascular disease, neural tube defects (NTD), colon cancer and acute leukemia.
YDR019C | GCV1 | AMT | 238310 | Glycine encephalopathy (GCE): accumulation of large quantities of glycine in all body tissues; the neonatal form has progressive lethargy, hypotonia, myclonic jerks leading to apnea and often death, mental retardation and intractable seizures; the late-onset form has spastic paraparesis, optic atrophy, mental retardation, seizures
[NAME] | GCV2 | GLDC | 238300 | Nonketotic hyperglycinemia (NKH) also known as glycine encephalopathy (GCE). NKH is an autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.
YAL044C | GCV3 | GCSH | 238330
YBR084W, [NAME] | [NAME], ADE3 | MTHFD1 | 172460 | Neural tube defects (NTD)