abnormality of the amniotic fluid Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. (Human Phenotype Ontology, HP_0001560)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001560
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Genes

164 genes associated with the abnormality of the amniotic fluid phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACTA1 actin, alpha 1, skeletal muscle
ACTG2 actin, gamma 2, smooth muscle, enteric
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
ALX4 ALX homeobox 4
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
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
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
CC2D2A coiled-coil and C2 domain containing 2A
CD96 CD96 molecule
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
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
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
EBP emopamil binding protein (sterol isomerase)
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM111A family with sequence similarity 111, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBLN5 fibulin 5
FGF20 fibroblast growth factor 20
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FLT4 fms-related tyrosine kinase 4
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
GMPPB GDP-mannose pyrophosphorylase B
GPC3 glypican 3
GPC4 glypican 4
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HIC1 hypermethylated in cancer 1
HNF1B HNF1 homeobox B
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
INVS inversin
ITGA6 integrin, alpha 6
ITGA8 integrin, alpha 8
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
LHX1 LIM homeobox 1
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MBTPS2 membrane-bound transcription factor peptidase, site 2
MKS1 Meckel syndrome, type 1
MRPS22 mitochondrial ribosomal protein S22
MTM1 myotubularin 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NEB nebulin
NEK8 NIMA-related kinase 8
NPHP3 nephronophthisis 3 (adolescent)
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PHGDH phosphoglycerate dehydrogenase
PHOX2B paired-like homeobox 2b
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PLEC plectin
PMM2 phosphomannomutase 2
POR P450 (cytochrome) oxidoreductase
PRRX1 paired related homeobox 1
PSAT1 phosphoserine aminotransferase 1
PTH1R parathyroid hormone 1 receptor
RAD51C RAD51 paralog C
RAPSN receptor-associated protein of the synapse
REN renin
RET ret proto-oncogene
RIT1 Ras-like without CAAX 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
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
SLX4 SLX4 structure-specific endonuclease subunit
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
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TRIP11 thyroid hormone receptor interactor 11
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
VANGL1 VANGL planar cell polarity protein 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDPCP WD repeat containing planar cell polarity effector
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