polyhydramnios Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. (Human Disease Ontology, DOID_8488)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001561
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Genes

100 genes associated with the polyhydramnios phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ACTG2 actin, gamma 2, smooth muscle, enteric
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ASCL1 achaete-scute family bHLH transcription factor 1
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSND barttin CLCNK-type chloride channel accessory beta subunit
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CD96 CD96 molecule
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CNTN1 contactin 1
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
DOK7 docking protein 7
EBP emopamil binding protein (sterol isomerase)
ERBB3 erb-b2 receptor tyrosine kinase 3
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FANCB Fanconi anemia, complementation group B
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FOXE1 forkhead box E1
FOXF1 forkhead box F1
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GLE1 GLE1 RNA export mediator
GPC3 glypican 3
GPC4 glypican 4
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HIC1 hypermethylated in cancer 1
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
INPPL1 inositol polyphosphate phosphatase-like 1
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KAT6B K(lysine) acetyltransferase 6B
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KIF7 kinesin family member 7
LBR lamin B receptor
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MTM1 myotubularin 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NEB nebulin
NPHP3 nephronophthisis 3 (adolescent)
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PHGDH phosphoglycerate dehydrogenase
PHOX2B paired-like homeobox 2b
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PLEC plectin
PRRX1 paired related homeobox 1
PSAT1 phosphoserine aminotransferase 1
PTH1R parathyroid hormone 1 receptor
RAPSN receptor-associated protein of the synapse
RET ret proto-oncogene
RIT1 Ras-like without CAAX 1
RYR1 ryanodine receptor 1 (skeletal)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOX17 SRY (sex determining region Y)-box 17
SOX9 SRY (sex determining region Y)-box 9
SPINT2 serine peptidase inhibitor, Kunitz type, 2
STRADA STE20-related kinase adaptor alpha
TMCO1 transmembrane and coiled-coil domains 1
TRIP11 thyroid hormone receptor interactor 11
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WNT3 wingless-type MMTV integration site family, member 3
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZMPSTE24 zinc metallopeptidase STE24