hypotrichosis Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. (Human Disease Ontology, DOID_4535)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:4535
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Genes

56 genes associated with the disease hypotrichosis in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
AR androgen receptor 2.35739
EDA2R ectodysplasin A2 receptor 2.19397
OPHN1 oligophrenin 1 1.89079
HEPH hephaestin 1.80063
HDAC9 histone deacetylase 9 1.19386
IL2RA interleukin 2 receptor, alpha 1.1703
C1ORF127 chromosome 1 open reading frame 127 0.964671
C6ORF10 chromosome 6 open reading frame 10 0.916769
SPPL2C signal peptide peptidase like 2C 0.867193
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.75119
SLC16A12 solute carrier family 16, member 12 0.7446
MAPT microtubule-associated protein tau 0.693129
MAPT-AS1 MAPT antisense RNA 1 0.65507
KANSL1 KAT8 regulatory NSL complex subunit 1 0.632785
LOC100288310 uncharacterized LOC100288310 0.613148
CRHR1 corticotropin releasing hormone receptor 1 0.608224
MALRD1 MAM and LDL receptor class A domain containing 1 0.571124
STX17 syntaxin 17 0.528352
ITK IL2-inducible T-cell kinase 0.484635
ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 0.484278
NTM neurotrimin 0.483443
APOLD1 apolipoprotein L domain containing 1 0.483207
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.482462
CPVL carboxypeptidase, vitellogenic-like 0.477059
MICA MHC class I polypeptide-related sequence A 0.475948
DPCR1 diffuse panbronchiolitis critical region 1 0.475842
IQSEC3 IQ motif and Sec7 domain 3 0.475669
ZNF217 zinc finger protein 217 0.474941
OPCML opioid binding protein/cell adhesion molecule-like 0.474475
ALPK1 alpha-kinase 1 0.473975
BTNL2 butyrophilin-like 2 0.473818
ZNF407 zinc finger protein 407 0.473179
EHMT2 euchromatic histone-lysine N-methyltransferase 2 0.471529
ACOX1 acyl-CoA oxidase 1, palmitoyl 0.471064
STARD13 StAR-related lipid transfer (START) domain containing 13 0.470769
UNC5C unc-5 homolog C (C. elegans) 0.469916
THSD4 thrombospondin, type I, domain containing 4 0.467851
DCBLD1 discoidin, CUB and LCCL domain containing 1 0.467446
MBNL2 muscleblind-like splicing regulator 2 0.466112
FNDC3B fibronectin type III domain containing 3B 0.462554
SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 0.461372
ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 0.46107
SPATA5 spermatogenesis associated 5 0.459626
ALAD aminolevulinate dehydratase 0.459072
ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 0.458784
CSMD1 CUB and Sushi multiple domains 1 0.458308
PHLDB2 pleckstrin homology-like domain, family B, member 2 0.457144
ZBTB16 zinc finger and BTB domain containing 16 0.455449
ITSN2 intersectin 2 0.454824
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.453514
TMEM215 transmembrane protein 215 0.451302
SGK1 serum/glucocorticoid regulated kinase 1 0.449525
THRB thyroid hormone receptor, beta 0.44836
LGALS14 lectin, galactoside-binding, soluble, 14 0.448149
ZNF677 zinc finger protein 677 0.442176
UBE2E2 ubiquitin-conjugating enzyme E2E 2 0.441976