abnormality of the 5th finger Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality affecting one or both 5th fingers. (Human Phenotype Ontology, HP_0004207)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004207
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Genes

262 genes associated with the abnormality of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ACVR1 activin A receptor, type I
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANKRD11 ankyrin repeat domain 11
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
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
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
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
CANT1 calcium activated nucleotidase 1
CC2D2A coiled-coil and C2 domain containing 2A
CCDC8 coiled-coil domain containing 8
CCND2 cyclin D2
CD96 CD96 molecule
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLIP2 CAP-GLY domain containing linker protein 2
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL7 cullin 7
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR7 7-dehydrocholesterol reductase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EFNB1 ephrin-B1
EIF4A3 eukaryotic translation initiation factor 4A3
ELN elastin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
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
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
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HIC1 hypermethylated in cancer 1
HMGA2 high mobility group AT-hook 2
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JAG1 jagged 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LBR lamin B receptor
LEMD3 LEM domain containing 3
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LMX1B LIM homeobox transcription factor 1, beta
LZTFL1 leucine zipper transcription factor-like 1
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NOG noggin
NPHP1 nephronophthisis 1 (juvenile)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
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
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX1 paired-like homeodomain 1
PNPLA6 patatin-like phospholipase domain containing 6
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
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
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM8A RNA binding motif protein 8A
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RNF216 ring finger protein 216
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCARF2 scavenger receptor class F, member 2
SDCCAG8 serologically defined colon cancer antigen 8
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
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
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SOS1 son of sevenless homolog 1 (Drosophila)
SRCAP Snf2-related CREBBP activator protein
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TCTN2 tectonic family member 2
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)
TGFBR1 transforming growth factor, beta receptor 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TWIST1 twist family bHLH transcription factor 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZFPM2 zinc finger protein, FOG family member 2