Condition: Melanocortin 4 Receptor Deficiency
rs1057516044
in
ABCC9
gene and
Melanocortin 4 Receptor Deficiency
PMID 26938784
2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs139043155
in
LDLR
gene and
Melanocortin 4 Receptor Deficiency
PMID 1301956
1992 Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
PMID 1734910
1992 Racial differences in the frequencies of scleroderma-related autoantibodies.
rs1057516048
in
NSD1
gene and
Melanocortin 4 Receptor Deficiency
PMID 26938784
2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1553794304
in
PIGX;CEP19
gene and
Melanocortin 4 Receptor Deficiency
PMID 29127258
2018 Homozygous mutation in
CEP19,
a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
rs1057515572
in
PMS2
gene and
Melanocortin 4 Receptor Deficiency
PMID 17557300
2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
rs312262717
in
SPG11
gene and
Melanocortin 4 Receptor Deficiency
PMID 19194956
2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.