short digit Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. (Human Phenotype Ontology, HP_0011927)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011927
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Genes

274 genes associated with the short digit phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALX3 ALX homeobox 3
ANKRD11 ankyrin repeat domain 11
ANTXR2 anthrax toxin receptor 2
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
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
BCR breakpoint cluster region
BHLHA9 basic helix-loop-helix family, member a9
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
C12ORF57 chromosome 12 open reading frame 57
CANT1 calcium activated nucleotidase 1
CCDC22 coiled-coil domain containing 22
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCN7 chloride channel, voltage-sensitive 7
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTSK cathepsin K
CUL4B cullin 4B
CUL7 cullin 7
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DOCK6 dedicator of cytokinesis 6
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EFNB1 ephrin-B1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
FAM111A family with sequence similarity 111, member A
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FOXG1 forkhead box G1
FTO fat mass and obesity associated
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
GGCX gamma-glutamyl carboxylase
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GPC3 glypican 3
GPC4 glypican 4
GPX4 glutathione peroxidase 4
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HOXA13 homeobox A13
HOXD13 homeobox D13
ICK intestinal cell (MAK-like) kinase
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGF1R insulin-like growth factor 1 receptor
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
IRX5 iroquois homeobox 5
JAG1 jagged 1
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KLLN killin, p53-regulated DNA replication inhibitor
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
LTBP2 latent transforming growth factor beta binding protein 2
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
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MGP matrix Gla protein
MIR17HG miR-17-92 cluster host gene
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MRPS16 mitochondrial ribosomal protein S16
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTNG1 netrin G1
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX3 paired box 3
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PHF6 PHD finger protein 6
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX1 paired-like homeodomain 1
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
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
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH3PXD2B SH3 and PX domains 2B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
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
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLURP1 secreted LY6/PLAUR domain containing 1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX9 SRY (sex determining region Y)-box 9
SRCAP Snf2-related CREBBP activator protein
STAMBP STAM binding protein
STX16 syntaxin 16
SUFU suppressor of fused homolog (Drosophila)
SULF1 sulfatase 1
TBC1D24 TBC1 domain family, member 24
TBX22 T-box 22
TBX3 T-box 3
TCF12 transcription factor 12
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TRIM32 tripartite motif containing 32
TRIP11 thyroid hormone receptor interactor 11
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
UPF3B UPF3 regulator of nonsense transcripts 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
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24