rs768768839
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21-hydroxylase deficiency
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0.010 |
GeneticVariation
|
BEFREE |
The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2.
|
17992539 |
2008 |
rs1351141519
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3 beta-Hydroxysteroid dehydrogenase deficiency
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|
0.010 |
GeneticVariation
|
BEFREE |
Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
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26079780 |
2015 |
rs45463492
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Aarskog syndrome
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0.020 |
GeneticVariation
|
BEFREE |
We describe a girl born to consanguineous Pakistani parents with clinical and biochemical features of FGD who is homozygous for the R146H mutation of the adrenocorticotropic hormone (ACTH) receptor gene.
|
9550364 |
1998 |
rs45463492
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Aarskog syndrome
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|
0.020 |
GeneticVariation
|
BEFREE |
This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene.
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17128565 |
2006 |
rs775159616
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Aarskog syndrome
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0.010 |
GeneticVariation
|
BEFREE |
The D103N-mutated MC2-R had an impaired cAMP response to physiological doses of ACTH, but the maximal response at very high concentrations of ACTH was similar to that obtained for the wild-type MC2-R. All these results demonstrated clear relationships based on functional studies between MC2-R homozygous mutations and FGD phenotype.
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12110946 |
2002 |
rs768299768
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Aarskog syndrome
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0.010 |
GeneticVariation
|
BEFREE |
The molecular analysis of FGD patients revealed a novel p.Gly116Val mutation in the MC2R gene in one patient and p.Met1Ile mutation in the MRAP gene in another patient.
|
18426811 |
2008 |
rs1265342534
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Aarskog syndrome
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|
0.010 |
GeneticVariation
|
BEFREE |
For the S120R, V142L, and A233P mutated MC2-R, cAMP production curves were similar to that obtained with M3 parental cells, confirming that these mutations are responsible for the FGD in the affected patients.
|
12110946 |
2002 |
rs1351141519
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|
Adrenal Gland Hyperplasia II
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|
0.010 |
GeneticVariation
|
BEFREE |
Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
|
26079780 |
2015 |
rs917202708
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ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
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0.010 |
GeneticVariation
|
BEFREE |
K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation.
|
28114924 |
2017 |
rs1477692170
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|
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
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|
0.010 |
GeneticVariation
|
BEFREE |
K36E attenuated α-MSH induced cAMP pathways, contributing to hypopigmentation.
|
28114924 |
2017 |
rs1181875747
|
|
Amyotrophic Lateral Sclerosis
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|
0.010 |
GeneticVariation
|
BEFREE |
As pioglitazone increases body weight through a direct inhibition of the hypothalamic melanocortin system, we studied hypothalamic neurons producing proopiomelanocortin (POMC) and the endogenous melanocortin inhibitor agouti-related peptide (AGRP), in mice expressing amyotrophic lateral sclerosis-linked mutant SOD1(G86R).
|
26984187 |
2016 |
rs80326661
|
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Anorexia Nervosa
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|
0.010 |
GeneticVariation
|
BEFREE |
This proband inherited another missense mutation from her father (Glu-188-Gly). c) A missense mutation (G-7016-A; Asp-80-Asn) was observed in a single patient with AN who also harboured the 9bp insertion on a paternally derived haplotype. d) The allelic co-occurence of two silent mutations (C-6982-T and C-7285-T) was detected in two obese subjects. e) Two further silent mutations (C-3832-T; C-7111-G) were detected in an underweight and an obese subject, respectively.
|
9768693 |
1998 |
rs750136455
|
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Anorexia Nervosa
|
|
0.010 |
GeneticVariation
|
BEFREE |
This proband inherited another missense mutation from her father (Glu-188-Gly). c) A missense mutation (G-7016-A; Asp-80-Asn) was observed in a single patient with AN who also harboured the 9bp insertion on a paternally derived haplotype. d) The allelic co-occurence of two silent mutations (C-6982-T and C-7285-T) was detected in two obese subjects. e) Two further silent mutations (C-3832-T; C-7111-G) were detected in an underweight and an obese subject, respectively.
|
9768693 |
1998 |
rs1042571
|
|
Anorexia Nervosa
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|
0.010 |
GeneticVariation
|
BEFREE |
AGRP rs13338499 polymorphism was associated with lowest illness-related BMI in those with AN (p = 0.0013), and NTRK2 rs1042571 was associated with highest BMI in those with BN (p = 0.0018).
|
24831852 |
2014 |
rs1042571
|
|
Bulimia Nervosa
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|
0.010 |
GeneticVariation
|
BEFREE |
AGRP rs13338499 polymorphism was associated with lowest illness-related BMI in those with AN (p = 0.0013), and NTRK2 rs1042571 was associated with highest BMI in those with BN (p = 0.0018).
|
24831852 |
2014 |
rs768768839
|
|
Chronic active hepatitis
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|
0.010 |
GeneticVariation
|
BEFREE |
By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.
|
15126570 |
2004 |
rs6713532
|
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Cocaine Dependence
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|
0.010 |
GeneticVariation
|
BEFREE |
Case-control analyses demonstrated an association of rs6713532 with alcohol or cocaine dependence in EAs (p(allele-wise) = .003-.008).
|
19217079 |
2009 |
rs1351141519
|
|
Congenital adrenal hyperplasia
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|
0.010 |
GeneticVariation
|
BEFREE |
3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation.
|
26079780 |
2015 |
rs768768839
|
|
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
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|
0.010 |
GeneticVariation
|
BEFREE |
The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2.
|
17992539 |
2008 |
rs3754860
|
|
Congestive heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the possible associations of defined variability in leptin (dbSNP ID rs7799039), proopiomelanocortin (dbSNP ID rs3754860 and dbSNP ID rs1009388), and leptin receptor gene (dbSNP rs1137101) with CHF and evaluate their potential as the CHF susceptibility genes.
|
19337797 |
2009 |
rs1009388
|
|
Congestive heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the possible associations of defined variability in leptin (dbSNP ID rs7799039), proopiomelanocortin (dbSNP ID rs3754860 and dbSNP ID rs1009388), and leptin receptor gene (dbSNP rs1137101) with CHF and evaluate their potential as the CHF susceptibility genes.
|
19337797 |
2009 |
rs202042867
|
|
Cutaneous Melanoma
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|
0.010 |
GeneticVariation
|
BEFREE |
Although our findings need to be confirmed by independent and larger studies we have described for the first time the association of D84E variant of the alpha-MSH receptor 1 gene as an independent risk factor for an earlier onset of cutaneous malignant melanoma.
|
18657399 |
2008 |
rs934429785
|
|
Deficiency of reductase
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|
0.010 |
GeneticVariation
|
BEFREE |
The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level.
|
18717241 |
2008 |
rs913377707
|
|
Deficiency of reductase
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|
0.010 |
GeneticVariation
|
BEFREE |
The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level.
|
18717241 |
2008 |
rs768768839
|
|
Deficiency of steroid 21-monooxygenase
|
|
0.010 |
GeneticVariation
|
BEFREE |
The diagnosis of non-classical (NC) 21-hydroxylase deficiency (21-OH-D) was substantiated by the finding of increased baseline and adrenocorticotropic hormone (ACTH)-stimulated 17-hydroxy-progesterone levels and was supported by molecular analyses of the CYP21A2 gene, which revealed V281L homozygosis in patient 1 and V281L/P30L compound heterozygosis in patient 2.
|
17992539 |
2008 |