pallor Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormally pale skin. (Human Phenotype Ontology, HP_0000980)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003717
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Genes

161 gene mutations causing the pallor phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADRBK1 adrenergic, beta, receptor kinase 1
AGO2 argonaute RISC catalytic component 2
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAS2 5'-aminolevulinate synthase 2
ANK1 ankyrin 1, erythrocytic
ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ATE1 arginyltransferase 1
BIRC6 baculoviral IAP repeat containing 6
BLM Bloom syndrome, RecQ helicase-like
BRD1 bromodomain containing 1
CBFB core-binding factor, beta subunit
CCBE1 collagen and calcium binding EGF domains 1
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH5 cadherin 5, type 2 (vascular endothelium)
CHD2 chromodomain helicase DNA binding protein 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL4B cullin 4B
DBT dihydrolipoamide branched chain transacylase E2
E2F4 E2F transcription factor 4, p107/p130-binding
EDARADD EDAR-associated death domain
EPO erythropoietin
ERN1 endoplasmic reticulum to nucleus signaling 1
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
FBXO45 F-box protein 45
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FERMT3 fermitin family member 3
FGF9 fibroblast growth factor 9
FKBP1A FK506 binding protein 1A, 12kDa
FSHR follicle stimulating hormone receptor
FST follistatin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GFI1B growth factor independent 1B transcription repressor
GNA13 guanine nucleotide binding protein (G protein), alpha 13
GSC goosecoid homeobox
GTF2IRD1 GTF2I repeat domain containing 1
HAP1 huntingtin-associated protein 1
HK1 hexokinase 1
HLX H2.0-like homeobox
HOXB4 homeobox B4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
ICMT isoprenylcysteine carboxyl methyltransferase
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKZF1 IKAROS family zinc finger 1 (Ikaros)
ILK integrin-linked kinase
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAK2 Janus kinase 2
JMJD6 jumonji domain containing 6
JUP junction plakoglobin
KAT6A K(lysine) acetyltransferase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF1 Kruppel-like factor 1 (erythroid)
KLF6 Kruppel-like factor 6
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT9 keratin 9, type I
LAMA4 laminin, alpha 4
LHX2 LIM homeobox 2
LIG1 ligase I, DNA, ATP-dependent
LMF1 lipase maturation factor 1
LMO2 LIM domain only 2 (rhombotin-like 1)
LMO4 LIM domain only 4
LPL lipoprotein lipase
LSR lipolysis stimulated lipoprotein receptor
MAEA macrophage erythroblast attacher
MAP2K4 mitogen-activated protein kinase kinase 4
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MDM4 MDM4, p53 regulator
MED31 mediator complex subunit 31
MEIS1 Meis homeobox 1
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MORF4L1 mortality factor 4 like 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYH11 myosin, heavy chain 11, smooth muscle
NCOA6 nuclear receptor coactivator 6
NCOR1 nuclear receptor corepressor 1
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFE2 nuclear factor, erythroid 2
NFE2L1 nuclear factor, erythroid 2-like 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NSDHL NAD(P) dependent steroid dehydrogenase-like
P4HA1 prolyl 4-hydroxylase, alpha polypeptide I
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PBX1 pre-B-cell leukemia homeobox 1
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDCD10 programmed cell death 10
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDS5B PDS5 cohesin associated factor B
PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKNOX1 PBX/knotted 1 homeobox 1
PLK2 polo-like kinase 2
PLVAP plasmalemma vesicle associated protein
PNPLA6 patatin-like phospholipase domain containing 6
POLB polymerase (DNA directed), beta
POU2F1 POU class 2 homeobox 1
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PRDM6 PR domain containing 6
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROS1 protein S (alpha)
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTPRB protein tyrosine phosphatase, receptor type, B
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA3 RAS p21 protein activator 3
RASIP1 Ras interacting protein 1
RB1 retinoblastoma 1
RB1CC1 RB1-inducible coiled-coil 1
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RXRA retinoid X receptor, alpha
SCG5 secretogranin V
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SENP1 SUMO1/sentrin specific peptidase 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SMAD7 SMAD family member 7
SOD2 superoxide dismutase 2, mitochondrial
SPTA1 spectrin, alpha, erythrocytic 1
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TAL1 T-cell acute lymphocytic leukemia 1
TBK1 TANK-binding kinase 1
TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)
TCF21 transcription factor 21
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TFRC transferrin receptor
TLL1 tolloid-like 1
TMOD3 tropomodulin 3 (ubiquitous)
TMPRSS6 transmembrane protease, serine 6
TNIP1 TNFAIP3 interacting protein 1
TNRC6A trinucleotide repeat containing 6A
TP53 tumor protein p53
TPH1 tryptophan hydroxylase 1
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC7A tetratricopeptide repeat domain 7A
TULP3 tubby like protein 3
XBP1 X-box binding protein 1
XIRP2 xin actin binding repeat containing 2
XPA xeroderma pigmentosum, complementation group A
YBX1 Y box binding protein 1
YY1 YY1 transcription factor
ZFP36L2 ZFP36 ring finger protein-like 2
ZFPM1 zinc finger protein, FOG family member 1
ZFPM2 zinc finger protein, FOG family member 2
ZMIZ1 zinc finger, MIZ-type containing 1
ZNF148 zinc finger protein 148