sporadic Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. (Human Phenotype Ontology, HP_0003745)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003745
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Genes

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

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALX3 ALX homeobox 3
CDKL5 cyclin-dependent kinase-like 5
CECR1 cat eye syndrome chromosome region, candidate 1
CHD7 chromodomain helicase DNA binding protein 7
CREBBP CREB binding protein
DIRC2 disrupted in renal carcinoma 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FGFR3 fibroblast growth factor receptor 3
FLCN folliculin
FLNB filamin B, beta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GLI2 GLI family zinc finger 2
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HNF1A HNF1 homeobox A
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
JAK2 Janus kinase 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
MAPT microtubule-associated protein tau
MECP2 methyl CpG binding protein 2
NDN necdin, melanoma antigen (MAGE) family member
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NLGN4X neuroligin 4, X-linked
NME1 NME/NM23 nucleoside diphosphate kinase 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
OGG1 8-oxoguanine DNA glycosylase
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PCSK1 proprotein convertase subtilisin/kexin type 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PSEN1 presenilin 1
PTDSS1 phosphatidylserine synthase 1
RAI1 retinoic acid induced 1
RB1 retinoblastoma 1
RNF139 ring finger protein 139
RPS14 ribosomal protein S14
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SNRPN small nuclear ribonucleoprotein polypeptide N
STK11 serine/threonine kinase 11
STX16 syntaxin 16
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TSC1 tuberous sclerosis 1
TSHR thyroid stimulating hormone receptor
TUBB4A tubulin, beta 4A class IVa
UBE3A ubiquitin protein ligase E3A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
ZBTB20 zinc finger and BTB domain containing 20