Clinodactyly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). (Human Phenotype Ontology, HP_0030084)
External Link https://www.disgenet.org/browser/0/1/0/C1850049
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACSL4 acyl-CoA synthetase long-chain family member 4
ACVR1 activin A receptor, type I
AFF2 AF4/FMR2 family, member 2
AGTR2 angiotensin II receptor, type 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKRD11 ankyrin repeat domain 11
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARX aristaless related homeobox
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GLCT beta 3-glucosyltransferase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCL2L14 BCL2-like 14 (apoptosis facilitator)
BCOR BCL6 corepressor
BCR breakpoint cluster region
BHLHA9 basic helix-loop-helix family, member a9
BLM Bloom syndrome, RecQ helicase-like
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
BPTF bromodomain PHD finger transcription factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRAT1 BRCA1-associated ATM activator 1
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CANT1 calcium activated nucleotidase 1
CCDC22 coiled-coil domain containing 22
CCDC65 coiled-coil domain containing 65
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDC42 cell division cycle 42
CDC45 cell division cycle 45
CDC6 cell division cycle 6
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK10 cyclin-dependent kinase 10
CDK13 cyclin-dependent kinase 13
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CENPE centromere protein E, 312kDa
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP55 centrosomal protein 55kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHSY1 chondroitin sulfate synthase 1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CKAP2L cytoskeleton associated protein 2-like
CLCF1 cardiotrophin-like cytokine factor 1
CLCN4 chloride channel, voltage-sensitive 4
CLIP2 CAP-GLY domain containing linker protein 2
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
CNKSR2 connector enhancer of kinase suppressor of Ras 2
COG5 component of oligomeric golgi complex 5
COG8 component of oligomeric golgi complex 8
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COLEC10 collectin sub-family member 10 (C-type lectin)
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CUL4B cullin 4B
CUL7 cullin 7
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DEAF1 DEAF1 transcription factor
DHPS deoxyhypusine synthase
DLEC1 deleted in lung and esophageal cancer 1
DLG3 discs, large homolog 3 (Drosophila)
DLX3 distal-less homeobox 3
DMD dystrophin
DONSON downstream neighbor of SON
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPF2 D4, zinc and double PHD fingers family 2
DSP desmoplakin
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EBF3 early B-cell factor 3
EBP emopamil binding protein (sterol isomerase)
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF4A3 eukaryotic translation initiation factor 4A3
ELN elastin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EP300 E1A binding protein p300
ERCC4 excision repair cross-complementation group 4
ERMARD ER membrane-associated RNA degradation
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM149B1 family with sequence similarity 149, member B1
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBXO11 F-box protein 11
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
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FOXG1 forkhead box G1
FRMPD4 FERM and PDZ domain containing 4
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
FUCA1 fucosidase, alpha-L- 1, tissue
FZD2 frizzled class receptor 2
G6PC3 glucose 6 phosphatase, catalytic, 3
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GCK glucokinase (hexokinase 4)
GDF1 growth differentiation factor 1
GDF5 growth differentiation factor 5
GDI1 GDP dissociation inhibitor 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJB2 gap junction protein, beta 2, 26kDa
GMNN geminin, DNA replication inhibitor
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPC3 glypican 3
GPC4 glypican 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCFC1 host cell factor C1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HEPHL1 hephaestin-like 1
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
HNRNPK heterogeneous nuclear ribonucleoprotein K
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD13 homeobox D13
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IFT52 intraflagellar transport 52
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IHH indian hedgehog
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INS insulin
INTU inturned planar cell polarity protein
IQSEC2 IQ motif and Sec7 domain 2
IRX5 iroquois homeobox 5
ITCH itchy E3 ubiquitin protein ligase
JAG1 jagged 1
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNK4 potassium channel, two pore domain subfamily K, member 4
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KDM1A lysine (K)-specific demethylase 1A
KDM5C lysine (K)-specific demethylase 5C
KDM6B lysine (K)-specific demethylase 6B
KIAA0753 KIAA0753
KIAA1109 KIAA1109
KIF15 kinesin family member 15
KIF7 kinesin family member 7
KIFBP kinesin family binding protein
KLHL7 kelch-like family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LEMD3 LEM domain containing 3
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRP6 low density lipoprotein receptor-related protein 6
LZTR1 leucine-zipper-like transcription regulator 1
MACROH2A1 macroH2A.1 histone
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAGEL2 melanoma antigen family L2
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MCTP2 multiple C2 domains, transmembrane 2
MECOM MDS1 and EVI1 complex locus
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED13L mediator complex subunit 13-like
MID2 midline 2
MKRN3 makorin ring finger protein 3
MKS1 Meckel syndrome, type 1
MORC2 MORC family CW-type zinc finger 2
MRAS muscle RAS oncogene homolog
MTM1 myotubularin 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NCAPG2 non-SMC condensin II complex, subunit G2
NDN necdin, melanoma antigen (MAGE) family member
NEK1 NIMA-related kinase 1
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NOG noggin
NONO non-POU domain containing, octamer-binding
NPAP1 nuclear pore associated protein 1
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTNG1 netrin G1
NUP107 nucleoporin 107kDa
NUP37 nucleoporin 37kDa
NXN nucleoredoxin
OBSL1 obscurin-like 1
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PACS1 phosphofurin acidic cluster sorting protein 1
PACS2 phosphofurin acidic cluster sorting protein 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PCGF2 polycomb group ring finger 2
PCNT pericentrin
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDX1 pancreatic and duodenal homeobox 1
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHIP pleckstrin homology domain interacting protein
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGH phosphatidylinositol glycan anchor biosynthesis, class H
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX1 paired-like homeodomain 1
PLK4 polo-like kinase 4
PLXND1 plexin D1
PNPLA6 patatin-like phospholipase domain containing 6
POC1A POC1 centriolar protein A
POLE polymerase (DNA directed), epsilon, catalytic subunit
POMP proteasome maturation protein
POR P450 (cytochrome) oxidoreductase
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PTCH1 patched 1
PTCHD1 patched domain containing 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
PUM1 pumilio RNA-binding family member 1
RAB11B RAB11B, member RAS oncogene family
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB39B RAB39B, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RALA v-ral simian leukemia viral oncogene homolog A (ras related)
RASA2 RAS p21 protein activator 2
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RERE arginine-glutamic acid dipeptide (RE) repeats
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
RIT1 Ras-like without CAAX 1
RNF216 ring finger protein 216
RNF6 ring finger protein (C3H2C3 type) 6
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL10 ribosomal protein L10
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAS related RAS viral (r-ras) oncogene homolog
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SATB2 SATB homeobox 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETD5 SET domain containing 5
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOX short stature homeobox
SIM1 single-minded family bHLH transcription factor 1
SIN3A SIN3 transcription regulator family member A
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX14 sorting nexin 14
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SOX5 SRY (sex determining region Y)-box 5
SPART spartin
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SPRTN SprT-like N-terminal domain
SRCAP Snf2-related CREBBP activator protein
SSR4 signal sequence receptor, delta
STAG2 stromal antigen 2
STAMBP STAM binding protein
STEEP1 STING1 ER exit protein 1
STXBP1 syntaxin binding protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYP synaptophysin
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX22 T-box 22
TBX4 T-box 4
TBX5 T-box 5
TCF20 transcription factor 20 (AR1)
TCF4 transcription factor 4
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGDS TDP-glucose 4,6-dehydratase
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM216 transmembrane protein 216
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase
TRAIP TRAF interacting protein
TRAPPC9 trafficking protein particle complex 9
TRIO trio Rho guanine nucleotide exchange factor
TRIP12 thyroid hormone receptor interactor 12
TRIP13 thyroid hormone receptor interactor 13
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TRRAP transformation/transcription domain-associated protein
TSPAN7 tetraspanin 7
TTPA tocopherol (alpha) transfer protein
TWIST1 twist family bHLH transcription factor 1
UBE2T ubiquitin-conjugating enzyme E2T
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UNC80 unc-80 homolog (C. elegans)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP27X ubiquitin specific peptidase 27, X-linked
USP9X ubiquitin specific peptidase 9, X-linked
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR19 WD repeat domain 19
WDR20 WD repeat domain 20
WDR35 WD repeat domain 35
WDR4 WD repeat domain 4
WIPI2 WD repeat domain, phosphoinositide interacting 2
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WWOX WW domain containing oxidoreductase
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XYLT1 xylosyltransferase I
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
YY1AP1 YY1 associated protein 1
ZBTB20 zinc finger and BTB domain containing 20
ZC4H2 zinc finger, C4H2 domain containing
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZNF41 zinc finger protein 41
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81