Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 GeneticVariation LHGDN In conclusion, here we describe a Croatian female with clinical IP phenotype having de novo genomic rearrangements in the NEMO gene. 19149237

2008
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 GeneticVariation LHGDN [An incontinentia pigmenti family with deletion in both NEMO gene and pseudogene DeltaNEMO]. 18841575

2008
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 GeneticVariation LHGDN Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients. 17910706

2007
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 GeneticVariation LHGDN NEMO mutational analysis in a Japanese family with incontinentia pigmenti. 17401323

2007
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 GeneticVariation LHGDN Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. 11673821

2001
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
CUI: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome 		1.000 GeneticVariation LHGDN We recently reported the structure of NEMO and demonstrated that most IP patients carry an identical deletion that arises due to misalignment between repeats. 11709543

2001