abnormal blistering of the skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. (Human Phenotype Ontology, HP_0008066)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008066
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Genes

70 genes associated with the abnormal blistering of the skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALAD aminolevulinate dehydratase
AQP5 aquaporin 5
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
C4A complement component 4A (Rodgers blood group)
COL17A1 collagen, type XVII, alpha 1
COL7A1 collagen, type VII, alpha 1
CPOX coproporphyrinogen oxidase
CTC1 CTS telomere maintenance complex component 1
DKC1 dyskeratosis congenita 1, dyskerin
DSP desmoplakin
DST dystonin
ECM1 extracellular matrix protein 1
FERMT1 fermitin family member 1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
HFE hemochromatosis
HLA-B major histocompatibility complex, class I, B
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
JUP junction plakoglobin
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT2 keratin 2, type II
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LPIN2 lipin 2
MEFV Mediterranean fever
MMP1 matrix metallopeptidase 1
NHP2 NHP2 ribonucleoprotein
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
PKP1 plakophilin 1
PLEC plectin
PPOX protoporphyrinogen oxidase
PRDM16 PR domain containing 16
RTEL1 regulator of telomere elongation helicase 1
SKI SKI proto-oncogene
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
TAT tyrosine aminotransferase
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGM5 transglutaminase 5
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53