Dysmorphic Features Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0432072
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Genes

429 genes associated with the disease Dysmorphic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG1 actin gamma 1
ADCY5 adenylate cyclase 5
ADGRG1 adhesion G protein-coupled receptor G1
ADK adenosine kinase
ADNP activity-dependent neuroprotector homeobox
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
AP4B1 adaptor-related protein complex 4, beta 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
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARX aristaless related homeobox
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ASXL3 additional sex combs like transcriptional regulator 3
ATP13A2 ATPase type 13A2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATR ATR serine/threonine kinase
ATRNL1 attractin-like 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUH AU RNA binding protein/enoyl-CoA hydratase
AUTS2 autism susceptibility candidate 2
AVPR2 arginine vasopressin receptor 2
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BBS2 Bardet-Biedl syndrome 2
BCAP31 B-cell receptor-associated protein 31
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BMP2 bone morphogenetic protein 2
BPTF bromodomain PHD finger transcription factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAT1 BRCA1-associated ATM activator 1
BRCA2 breast cancer 2, early onset
BRPF1 bromodomain and PHD finger containing, 1
BTD biotinidase
BTG1 B-cell translocation gene 1, anti-proliferative
C5ORF42 chromosome 5 open reading frame 42
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASR calcium-sensing receptor
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCDC151 coiled-coil domain containing 151
CCND2 cyclin D2
CD38 CD38 molecule
CDC42 cell division cycle 42
CDK13 cyclin-dependent kinase 13
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP63 centrosomal protein 63kDa
CHAMP1 chromosome alignment maintaining phosphoprotein 1
CHD2 chromodomain helicase DNA binding protein 2
CHD4 chromodomain helicase DNA binding protein 4
CHD7 chromodomain helicase DNA binding protein 7
CHD8 chromodomain helicase DNA binding protein 8
CHMP1A charged multivesicular body protein 1A
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CIZ1 CDKN1A interacting zinc finger protein 1
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLTC clathrin, heavy chain (Hc)
CNOT3 CCR4-NOT transcription complex, subunit 3
COG5 component of oligomeric golgi complex 5
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL6A2 collagen, type VI, alpha 2
COL7A1 collagen, type VII, alpha 1
COQ4 coenzyme Q4
COX1
COX4I1 cytochrome c oxidase subunit IV isoform 1
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CSF1R colony stimulating factor 1 receptor
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSTB cystatin B (stefin B)
CTCF CCCTC-binding factor (zinc finger protein)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
CUL3 cullin 3
CUL4B cullin 4B
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6
DEAF1 DEAF1 transcription factor
DERL1 derlin 1
DHCR7 7-dehydrocholesterol reductase
DICER1 dicer 1, ribonuclease type III
DLG3 discs, large homolog 3 (Drosophila)
DNAH5 dynein, axonemal, heavy chain 5
DNM1 dynamin 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DOCK1 dedicator of cytokinesis 1
DOCK3 dedicator of cytokinesis 3
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DSCAM Down syndrome cell adhesion molecule
DUOX2 dual oxidase 2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EBF3 early B-cell factor 3
ECEL1 endothelin converting enzyme-like 1
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EDIL3 EGF-like repeats and discoidin I-like domains 3
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EP300 E1A binding protein p300
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
EXOC6B exocyst complex component 6B
EYA4 EYA transcriptional coactivator and phosphatase 4
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLG filaggrin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLT4 fms-related tyrosine kinase 4
FMR1 fragile X mental retardation 1
FNDC3B fibronectin type III domain containing 3B
FOXA2 forkhead box A2
FOXG1 forkhead box G1
FOXP1 forkhead box P1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GALNS galactosamine (N-acetyl)-6-sulfatase
GATAD2B GATA zinc finger domain containing 2B
GH1 growth hormone 1
GHSR growth hormone secretagogue receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLE1 GLE1 RNA export mediator
GLI2 GLI family zinc finger 2
GNAS GNAS complex locus
GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2
GRB10 growth factor receptor-bound protein 10
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
H3F3A H3 histone, family 3A
HDAC8 histone deacetylase 8
HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HIST1H1E histone cluster 1, H1e
HIVEP2 human immunodeficiency virus type I enhancer binding protein 2
HNF4A hepatocyte nuclear factor 4, alpha
HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H')
HNRNPK heterogeneous nuclear ribonucleoprotein K
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HPRT1 hypoxanthine phosphoribosyltransferase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HTT huntingtin
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL33R interleukin 33 receptor
INSR insulin receptor
INTS1 integrator complex subunit 1
IRF2BPL interferon regulatory factor 2 binding protein-like
IRF6 interferon regulatory factor 6
ITCH itchy E3 ubiquitin protein ligase
JAG1 jagged 1
JARID2 jumonji, AT rich interactive domain 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KDM6B lysine (K)-specific demethylase 6B
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
LAMC3 laminin, gamma 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIG4 ligase IV, DNA, ATP-dependent
LZTR1 leucine-zipper-like transcription regulator 1
MAGEL2 melanoma antigen family L2
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP1B microtubule-associated protein 1B
MAP2K1 mitogen-activated protein kinase kinase 1
MAST1 microtubule associated serine/threonine kinase 1
MBD5 methyl-CpG binding domain protein 5
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13-like
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MEIS2 Meis homeobox 2
METTL23 methyltransferase like 23
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MN1 meningioma (disrupted in balanced translocation) 1
MOGS mannosyl-oligosaccharide glucosidase
MPZ myelin protein zero
MSL3 male-specific lethal 3 homolog (Drosophila)
MTIF2 mitochondrial translational initiation factor 2
MYBPC3 myosin binding protein C, cardiac
NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit
NAGLU N-acetylglucosaminidase, alpha
NDN necdin, melanoma antigen (MAGE) family member
NEB nebulin
NF1 neurofibromin 1
NFIA nuclear factor I/A
NGLY1 N-glycanase 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NLGN2 neuroligin 2
NLGN3 neuroligin 3
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOTCH1 notch 1
NPR2 natriuretic peptide receptor 2
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NSD2 nuclear receptor binding SET domain protein 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCA2 oculocutaneous albinism II
OPA1 optic atrophy 1 (autosomal dominant)
OPRD1 opioid receptor, delta 1
OSGEP O-sialoglycoprotein endopeptidase
OTUD6B OTU domain containing 6B
OTX2 orthodenticle homeobox 2
OXSM 3-oxoacyl-ACP synthase, mitochondrial
PACS1 phosphofurin acidic cluster sorting protein 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PCDH19 protocadherin 19
PCGF2 polycomb group ring finger 2
PCNT pericentrin
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PEX6 peroxisomal biogenesis factor 6
PGAP3 post-GPI attachment to proteins 3
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PLCB4 phospholipase C, beta 4
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PNPLA2 patatin-like phospholipase domain containing 2
POGZ pogo transposable element with ZNF domain
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU3F3 POU class 3 homeobox 3
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP2R5D protein phosphatase 2, regulatory subunit B', delta
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PQBP1 polyglutamine binding protein 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRR12 proline rich 12
PRRT2 proline-rich transmembrane protein 2
PTCH1 patched 1
PTCHD1 patched domain containing 1
PTEN phosphatase and tensin homolog
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTRH2 peptidyl-tRNA hydrolase 2
PUF60 poly-U binding splicing factor 60KDa
PURA purine-rich element binding protein A
PYCR1 pyrroline-5-carboxylate reductase 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAD51 RAD51 recombinase
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2
RBM10 RNA binding motif protein 10
RBPJ recombination signal binding protein for immunoglobulin kappa J region
REC8 REC8 meiotic recombination protein
RECQL4 RecQ protein-like 4
RELN reelin
RIT1 Ras-like without CAAX 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RPS23 ribosomal protein S23
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX1 runt-related transcription factor 1
RYR1 ryanodine receptor 1 (skeletal)
SACS sacsin molecular chaperone
SASS6 spindle assembly 6 homolog (C. elegans)
SATB2 SATB homeobox 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEPT9 septin 9
SETBP1 SET binding protein 1
SETD1A SET domain containing 1A
SETD2 SET domain containing 2
SETD5 SET domain containing 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGSH N-sulfoglucosamine sulfohydrolase
SHANK2 SH3 and multiple ankyrin repeat domains 2
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SIN3A SIN3 transcription regulator family member A
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMC1A structural maintenance of chromosomes 1A
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SON SON DNA binding protein
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SOX6 SRY (sex determining region Y)-box 6
SOX9 SRY (sex determining region Y)-box 9
SPART spartin
SPAST spastin
SPNS2 spinster homolog 2 (Drosophila)
SPRED1 sprouty-related, EVH1 domain containing 1
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAC3 SH3 and cysteine rich domain 3
STAG1 stromal antigen 1
STAG2 stromal antigen 2
SURF1 surfeit 1
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
SYNGAP1 synaptic Ras GTPase activating protein 1
SYT1 synaptotagmin I
SZT2 seizure threshold 2 homolog (mouse)
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBCE tubulin folding cofactor E
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBX1 T-box 1
TCF20 transcription factor 20 (AR1)
TCF4 transcription factor 4
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THOC2 THO complex 2
THOC6 THO complex 6
THRA thyroid hormone receptor, alpha
TLK2 tousled-like kinase 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM151B transmembrane protein 151B
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain
TP53 tumor protein p53
TPM2 tropomyosin 2 (beta)
TRAPPC6A trafficking protein particle complex 6A
TRIO trio Rho guanine nucleotide exchange factor
TRIP12 thyroid hormone receptor interactor 12
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TUBA1A tubulin, alpha 1a
TUBB tubulin, beta class I
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP9X ubiquitin specific peptidase 9, X-linked
VARS2 valyl-tRNA synthetase 2, mitochondrial
VAX2 ventral anterior homeobox 2
VLDLR very low density lipoprotein receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
WAC WW domain containing adaptor with coiled-coil
WDR20 WD repeat domain 20
WDR26 WD repeat domain 26
WDR45 WD repeat domain 45
WNT10A wingless-type MMTV integration site family, member 10A
XYLT1 xylosyltransferase I
XYLT2 xylosyltransferase II
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZEB2 zinc finger E-box binding homeobox 2
ZMYND11 zinc finger, MYND-type containing 11
ZSWIM6 zinc finger, SWIM-type containing 6