abnormality of phalanx of finger Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormalities affecting the phalanx of finger. (Human Phenotype Ontology, HP_0005918)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005918
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
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
AHI1 Abelson helper integration site 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
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)
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATL3 atlastin GTPase 3
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BANF1 barrier to autointegration factor 1
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
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C5ORF42 chromosome 5 open reading frame 42
CANT1 calcium activated nucleotidase 1
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCND2 cyclin D2
CD96 CD96 molecule
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
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
CHSY1 chondroitin sulfate synthase 1
CLCF1 cardiotrophin-like cytokine factor 1
CLCN7 chloride channel, voltage-sensitive 7
CNTN4 contactin 4
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CSPP1 centrosome and spindle pole associated protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTSC cathepsin C
CTSK cathepsin K
DDR2 discoidin domain receptor tyrosine kinase 2
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
DPYS dihydropyrimidinase
DSP desmoplakin
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EP300 E1A binding protein p300
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
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
FBN1 fibrillin 1
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
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
FNBP4 formin binding protein 4
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GDF5 growth differentiation factor 5
GGCX gamma-glutamyl carboxylase
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC4 histone deacetylase 4
HES7 hes family bHLH transcription factor 7
HIRA histone cell cycle regulator
HOXA13 homeobox A13
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
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
IGHMBP2 immunoglobulin mu binding protein 2
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL11RA interleukin 11 receptor, alpha
IMPAD1 inositol monophosphatase domain containing 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
ITGB4 integrin, beta 4
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
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM5C lysine (K)-specific demethylase 5C
KIAA0196 KIAA0196
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
L1CAM L1 cell adhesion molecule
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LZTFL1 leucine zipper transcription factor-like 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAPK1 mitogen-activated protein kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
MIR17HG miR-17-92 cluster host gene
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP2 matrix metallopeptidase 2
MSX2 msh homeobox 2
MYBPC1 myosin binding protein C, slow type
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPR2 natriuretic peptide receptor 2
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PHF6 PHD finger protein 6
PHF8 PHD finger protein 8
PIEZO2 piezo-type mechanosensitive ion channel component 2
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)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX1 paired-like homeodomain 1
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRG4 proteoglycan 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTHLH parathyroid hormone-like hormone
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RBBP8 retinoblastoma binding protein 8
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
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
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL5 ribosomal protein L5
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
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
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH2B1 SH2B adaptor protein 1
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLX4 SLX4 structure-specific endonuclease subunit
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
SMOC1 SPARC related modular calcium binding 1
SNIP1 Smad nuclear interacting protein 1
SNX3 sorting nexin 3
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
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TBC1D24 TBC1 domain family, member 24
TBX1 T-box 1
TBX3 T-box 3
TBX5 T-box 5
TCTN1 tectonic family member 1
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
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
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
TUBB3 tubulin, beta 3 class III
TWIST1 twist family bHLH transcription factor 1
UBA1 ubiquitin-like modifier activating enzyme 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP9X ubiquitin specific peptidase 9, X-linked
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
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WISP3 WNT1 inducible signaling pathway protein 3
WNK1 WNK lysine deficient protein kinase 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC9 zinc finger, DHHC-type containing 9
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24
ZNF423 zinc finger protein 423