Abnormalities, Multiple Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

98 genes associated with the Abnormalities, Multiple phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ADAM18 ADAM metallopeptidase domain 18
AHI1 Abelson helper integration site 1
ALMS1 Alstrom syndrome protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
AR androgen receptor
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ASTN2 astrotactin 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
C10ORF2 chromosome 10 open reading frame 2
CAPN10 calpain 10
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD96 CD96 molecule
CDH23 cadherin-related 23
CEP290 centrosomal protein 290kDa
CEP89 centrosomal protein 89kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
DISC1 disrupted in schizophrenia 1
DLG2 discs, large homolog 2 (Drosophila)
DLX3 distal-less homeobox 3
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
EPPK1 epiplakin 1
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FGF10 fibroblast growth factor 10
FGF18 fibroblast growth factor 18
FGFR1 fibroblast growth factor receptor 1
FLG filaggrin
FLRT3 fibronectin leucine rich transmembrane protein 3
FOXE1 forkhead box E1
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GLI3 GLI family zinc finger 3
GPR35 G protein-coupled receptor 35
HAND1 heart and neural crest derivatives expressed 1
HEPACAM hepatic and glial cell adhesion molecule
HOXA10 homeobox A10
HOXA13 homeobox A13
IL10 interleukin 10
IL6 interleukin 6
INSL3 insulin-like 3 (Leydig cell)
IRF6 interferon regulatory factor 6
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LOR loricrin
MACROD2 MACRO domain containing 2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MFAP4 microfibrillar-associated protein 4
MKS1 Meckel syndrome, type 1
MNX1 motor neuron and pancreas homeobox 1
MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)
MSX1 msh homeobox 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYO7A myosin VIIA
NPHP1 nephronophthisis 1 (juvenile)
NRP1 neuropilin 1
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PARP10 poly (ADP-ribose) polymerase family, member 10
PCDH15 protocadherin-related 15
PHOX2B paired-like homeobox 2b
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
PLEC plectin
POLG polymerase (DNA directed), gamma
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RFC1 replication factor C (activator 1) 1, 145kDa
SCN9A sodium channel, voltage gated, type IX alpha subunit
SF1 splicing factor 1
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOS1 son of sevenless homolog 1 (Drosophila)
SPATA17 spermatogenesis associated 17
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
STX18 syntaxin 18
TBX1 T-box 1
TBX5 T-box 5
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNF tumor necrosis factor
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TP63 tumor protein p63
TRIO trio Rho guanine nucleotide exchange factor
TWSG1 twisted gastrulation BMP signaling modulator 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
WNT4 wingless-type MMTV integration site family, member 4
ZFHX4 zinc finger homeobox 4