COASY, Coenzyme A synthase, 80347

N. diseases: 125; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 GeneticVariation disease UNIPROT Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 24360804 2014
CUI: C3810230
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 		0.700 GeneticVariation disease UNIPROT Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. 28489334 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 GeneticVariation disease BEFREE Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism. 10094437 1999
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 GeneticVariation disease BEFREE Postmortem molecular studies of GNAS, the gene for guanine nucleotide-binding protein, alpha-stimulating activity polypeptide (gene for PHP1A), identified a de novo heterozygous 3 bp in frame deletion predicting a deletion of the asparagine residue at position 377 (deltaN377). 19530187 2009
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 GeneticVariation disease BEFREE Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. 2829196 1988
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.100 GeneticVariation disease BEFREE Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder characterized by parathyroid (PTH) resistance leading to hypocalcemia and hyperphosphatemia associated with a GNAS (guanine nucleotide-binding protein α-subunit) mutation (PHP1A) or epimutation (PHP1B). 25591844 2015
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 GeneticVariation disease BEFREE The main features of McCune-Albright are fibrous dysplasia of bone (FD), café-au-lait macules and precocious puberty; the disease is caused by activating mutations in the Guanine Nucleotide-binding protein, Alpha-stimulating activity polypeptide (GNAS) gene which are always somatic. 24012779 2014
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 GeneticVariation disease BEFREE It is well known that fibrous dysplasia (FD) is characterized by the presence of activating mutations involving G-nucleotide binding protein-α subunit (GNAS) involving codon R201 and rarely codon 227 with a mutation frequency between 45% and 93%. 26574629 2016
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 GeneticVariation disease BEFREE Guanine nucleotide-binding protein/α-subunit (GNAS) mutations are involved in fibrous dysplasia (FD) pathogenesis. 28588314 2017
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		0.060 GeneticVariation disease BEFREE Fibrous dysplasia is a benign bone disease caused by a mutation in the gene for the stimulatory guanine nucleotide-binding protein Gs alpha, leading to high cyclic adenosine monophosphate levels. 18799196 2009
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		0.060 GeneticVariation disease BEFREE Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. 2829196 1988
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.050 GeneticVariation disease BEFREE Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism. 10094437 1999
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.050 GeneticVariation disease BEFREE Mutations in the guanine nucleotide binding protein alpha subunit (Gs alpha) have been found in patients with pseudohypoparathyroidism (PHP). 8862504 1996
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.050 GeneticVariation disease BEFREE McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. 29104223 2017
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.050 GeneticVariation disease BEFREE McCune-Albright Syndrome (MAS; OMIM # 174800) is a rare, sporadic disease caused by a post-zygotic, activating mutation in the guanine-nucleotide binding protein α-subunit (<i>GNAS1</i>) gene. 29988390 2018
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		0.040 GeneticVariation disease BEFREE All had been clinically diagnosed, and the prevalence of genetic mutations linked to NBIA (PANK2 [exons 1-7], PLA2G6 [exons 2-17], C19orf12 [exons 1-3], WDR45 [exons 2-11], COASY [exons 1-9], FA2H [exons 1-7], and RAB39B [exons 1, 2]) was evaluated. 25744623 2015
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		0.040 GeneticVariation disease BEFREE Mutations in PANK2 and CoASY, both implicated in CoA biosynthesis that acts as a fatty acyl carrier, lead, respectively, to PKAN and CoPAN forms of NBIA. 25668476 2015
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		0.040 GeneticVariation disease BEFREE Exome sequencing revealed the presence of recessive missense mutations in COASY, encoding coenzyme A (CoA) synthase in one NBIA-affected subject. 24360804 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 GeneticVariation group BEFREE KRAS and guanine nucleotide-binding protein mutations in pancreatic juice collected from the duodenum of patients at high risk for neoplasia undergoing endoscopic ultrasound. 25481712 2015
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		0.030 GeneticVariation disease BEFREE PHP and PPHP are etiologically linked and caused by genetic and/or epigenetic alterations in the guanine nucleotide-binding protein alpha-stimulating (G<sub>s</sub> α) locus (GNAS) in chromosome 20q13. 31041856 2019
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		0.030 GeneticVariation disease BEFREE Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism. 10094437 1999
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.020 GeneticVariation disease BEFREE The main features of McCune-Albright are fibrous dysplasia of bone (FD), café-au-lait macules and precocious puberty; the disease is caused by activating mutations in the Guanine Nucleotide-binding protein, Alpha-stimulating activity polypeptide (GNAS) gene which are always somatic. 24012779 2014
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.020 GeneticVariation disease BEFREE McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. 29104223 2017
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.020 GeneticVariation disease BEFREE More recently, a specific mutation of guanine nucleotide binding protein Gq alpha subunit (GNAQ) has also been identified in a proportion of UM. 20960562 2011