autosomal dominant disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (Human Disease Ontology, DOID_0050736)
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Genes

116 genes involed in the disease autosomal dominant disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ACVRL1 activin A receptor type II-like 1
ALPL alkaline phosphatase, liver/bone/kidney
APC adenomatous polyposis coli
BRAF B-Raf proto-oncogene, serine/threonine kinase
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CALR3 calreticulin 3
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CHEK2 checkpoint kinase 2
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
CREBBP CREB binding protein
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CYLD cylindromatosis (turban tumor syndrome)
DSG4 desmoglein 4
EDN3 endothelin 3
EDNRB endothelin receptor type B
ENG endoglin
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLCN folliculin
FLNB filamin B, beta
FOXC1 forkhead box C1
FOXL2 forkhead box L2
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GNAS GNAS complex locus
GTF2H5 general transcription factor IIH, polypeptide 5
HRAS Harvey rat sarcoma viral oncogene homolog
HTT huntingtin
JPH2 junctophilin 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT86 keratin 86, type II
LMX1B LIM homeobox transcription factor 1, beta
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MUTYH mutY homolog
MYBPC3 myosin binding protein C, cardiac
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
MYOZ2 myozenin 2
NEXN nexilin (F actin binding protein)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NOD2 nucleotide-binding oligomerization domain containing 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCA2 oculocutaneous albinism II
PAX3 paired box 3
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLN phospholamban
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SH3BP2 SH3-domain binding protein 2
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SLC45A2 solute carrier family 45, member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SNAI2 snail family zinc finger 2
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
TCAP titin-cap
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TP53 tumor protein p53
TPM1 tropomyosin 1 (alpha)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTN titin
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
VCL vinculin
WT1 Wilms tumor 1