abnormality of phalangeal joints of the hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006261
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Genes

127 genes associated with the abnormality of phalangeal joints of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTSL2 ADAMTS-like 2
ANTXR2 anthrax toxin receptor 2
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
BCOR BCL6 corepressor
BCR breakpoint cluster region
CANT1 calcium activated nucleotidase 1
CCBE1 collagen and calcium binding EGF domains 1
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 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
CLCF1 cardiotrophin-like cytokine factor 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
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DOK7 docking protein 7
EFNB1 ephrin-B1
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GPC4 glypican 4
HES7 hes family bHLH transcription factor 7
HOXD13 homeobox D13
IGHMBP2 immunoglobulin mu binding protein 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IMPAD1 inositol monophosphatase domain containing 1
ITGB4 integrin, beta 4
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDM5C lysine (K)-specific demethylase 5C
L1CAM L1 cell adhesion molecule
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LMBR1 limb development membrane protein 1
LMNA lamin A/C
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
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MMP2 matrix metallopeptidase 2
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NSD1 nuclear receptor binding SET domain protein 1
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAX3 paired box 3
PIEZO2 piezo-type mechanosensitive ion channel component 2
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRG4 proteoglycan 4
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RAPSN receptor-associated protein of the synapse
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SETBP1 SET binding 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
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMOC1 SPARC related modular calcium binding 1
SRCAP Snf2-related CREBBP activator protein
TBX3 T-box 3
TCTN3 tectonic family member 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM70 transmembrane protein 70
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TUBB3 tubulin, beta 3 class III
UBA1 ubiquitin-like modifier activating enzyme 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
WFS1 Wolfram syndrome 1 (wolframin)
WISP3 WNT1 inducible signaling pathway protein 3
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZDHHC9 zinc finger, DHHC-type containing 9
ZMPSTE24 zinc metallopeptidase STE24