physical disorder Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. (Human Disease Ontology, DOID_0080015)
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Genes

68 genes involed in the disease physical disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ACTC1 actin, alpha, cardiac muscle 1
ACVR2B activin A receptor, type IIB
AKT1 v-akt murine thymoma viral oncogene homolog 1
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
CASC5 cancer susceptibility candidate 5
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDON cell adhesion associated, oncogene regulated
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP152 centrosomal protein 152kDa
CFC1 cripto, FRL-1, cryptic family 1
CFC1B cripto, FRL-1, cryptic family 1B
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
DCX doublecortin
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FKTN fukutin
GALNT11 polypeptide N-acetylgalactosaminyltransferase 11
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
ISPD isoprenoid synthase domain containing
LAMB1 laminin, beta 1
LEFTY2 left-right determination factor 2
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MCPH1 microcephalin 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
NDE1 nudE neurodevelopment protein 1
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX6 paired box 6
PHC1 polyhomeotic homolog 1 (Drosophila)
PNKP polynucleotide kinase 3'-phosphatase
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PTCH1 patched 1
QARS glutaminyl-tRNA synthetase
RELN reelin
SHH sonic hedgehog
SIX3 SIX homeobox 3
STIL SCL/TAL1 interrupting locus
TBX20 T-box 20
TCF4 transcription factor 4
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGIF1 TGFB-induced factor homeobox 1
TLL1 tolloid-like 1
TMEM5 transmembrane protein 5
TUBA1A tubulin, alpha 1a
VSX2 visual system homeobox 2
WDR62 WD repeat domain 62
ZFPM2 zinc finger protein, FOG family member 2
ZIC2 Zic family member 2
ZIC3 Zic family member 3
ZNF169 zinc finger protein 169
ZNF335 zinc finger protein 335