congenital onset Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A phenotypic abnormality that is present at birth. (Human Phenotype Ontology, HP_0003577)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003577
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Genes

142 genes associated with the congenital onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACTA1 actin, alpha 1, skeletal muscle
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
B3GNT1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BSND barttin CLCNK-type chloride channel accessory beta subunit
CA8 carbonic anhydrase VIII
CCDC103 coiled-coil domain containing 103
CCDC88C coiled-coil domain containing 88C
CD8A CD8a molecule
CDSN corneodesmosin
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CHAT choline O-acetyltransferase
CHKB choline kinase beta
CHMP1A charged multivesicular body protein 1A
CIB2 calcium and integrin binding family member 2
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
COG6 component of oligomeric golgi complex 6
COL7A1 collagen, type VII, alpha 1
CTSD cathepsin D
DCHS1 dachsous cadherin-related 1
DNAAF3 dynein, axonemal, assembly factor 3
DNAL1 dynein, axonemal, light chain 1
DNM2 dynamin 2
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
EBP emopamil binding protein (sterol isomerase)
EGR2 early growth response 2
ELOVL4 ELOVL fatty acid elongase 4
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
EXOSC3 exosome component 3
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
FAT4 FAT atypical cadherin 4
FKRP fukutin related protein
FLT4 fms-related tyrosine kinase 4
GFM1 G elongation factor, mitochondrial 1
GMPPB GDP-mannose pyrophosphorylase B
GSC goosecoid homeobox
HBG2 hemoglobin, gamma G
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HDAC4 histone deacetylase 4
HK1 hexokinase 1
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA6 integrin, alpha 6
ITGA8 integrin, alpha 8
ITGB4 integrin, beta 4
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
JAM3 junctional adhesion molecule 3
KIAA2022 KIAA2022
KIF5C kinesin family member 5C
KITLG KIT ligand
KLF1 Kruppel-like factor 1 (erythroid)
KPTN kaptin (actin binding protein)
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MEGF10 multiple EGF-like-domains 10
MPC1 mitochondrial pyruvate carrier 1
MPDZ multiple PDZ domain protein
MPZ myelin protein zero
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MTO1 mitochondrial tRNA translation optimization 1
MYO7A myosin VIIA
NDE1 nudE neurodevelopment protein 1
NEK8 NIMA-related kinase 8
NKX2-1 NK2 homeobox 1
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
OFD1 oral-facial-digital syndrome 1
PAX2 paired box 2
PC pyruvate carboxylase
PDE4D phosphodiesterase 4D, cAMP-specific
PDHX pyruvate dehydrogenase complex, component X
PEX12 peroxisomal biogenesis factor 12
PGAP2 post-GPI attachment to proteins 2
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PLEC plectin
POLE polymerase (DNA directed), epsilon, catalytic subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PSAP prosaposin
PUF60 poly-U binding splicing factor 60KDa
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RET ret proto-oncogene
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
SCN5A sodium channel, voltage gated, type V alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SEPN1 selenoprotein N, 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
STAMBP STAM binding protein
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
T T, brachyury homolog (mouse)
TMEM231 transmembrane protein 231
TMEM70 transmembrane protein 70
TPM3 tropomyosin 3
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTN titin
TUBA8 tubulin, alpha 8
TUBB3 tubulin, beta 3 class III
TYR tyrosinase
UROS uroporphyrinogen III synthase
VLDLR very low density lipoprotein receptor
VRK1 vaccinia related kinase 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR62 WD repeat domain 62
ZBTB24 zinc finger and BTB domain containing 24
ZC4H2 zinc finger, C4H2 domain containing
ZNF335 zinc finger protein 335
ZNF592 zinc finger protein 592