Bloch Sulzberger Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0021171
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Genes

38 genes associated with the disease Bloch Sulzberger Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AR androgen receptor
ARR3 arrestin 3, retinal (X-arrestin)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CCL11 chemokine (C-C motif) ligand 11
CD38 CD38 molecule
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CXADR coxsackie virus and adenovirus receptor
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
EDA ectodysplasin A
EDARADD EDAR-associated death domain
G6PD glucose-6-phosphate dehydrogenase
GJB6 gap junction protein, beta 6, 30kDa
HAND2 heart and neural crest derivatives expressed 2
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL4 interleukin 4
MPO myeloperoxidase
MUC1 mucin 1, cell surface associated
NF2 neurofibromin 2 (merlin)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NR1I3 nuclear receptor subfamily 1, group I, member 3
NSDHL NAD(P) dependent steroid dehydrogenase-like
PREP prolyl endopeptidase
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROKR2 prokineticin receptor 2
SHARPIN SHANK-associated RH domain interactor
SIRT1 sirtuin 1
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPIN2A spindlin family, member 2A
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIM13 tripartite motif containing 13