abnormal tendon morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the structure or form of the tendons, also often called sinews. (Human Phenotype Ontology, HP_0100261)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100261
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Genes

365 genes associated with the abnormal tendon morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABHD12 abhydrolase domain containing 12
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACTA1 actin, alpha 1, skeletal muscle
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAMTSL2 ADAMTS-like 2
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
AR androgen receptor
ARID1B AT rich interactive domain 1B (SWI1-like)
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BMP4 bone morphogenetic protein 4
C19ORF12 chromosome 19 open reading frame 12
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CCBE1 collagen and calcium binding EGF domains 1
CCR6 chemokine (C-C motif) receptor 6
CDC6 cell division cycle 6
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDT1 chromatin licensing and DNA replication factor 1
CHAT choline O-acetyltransferase
CHMP1A charged multivesicular body protein 1A
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CNTN1 contactin 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
COL7A1 collagen, type VII, alpha 1
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRYAB crystallin, alpha B
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTGF connective tissue growth factor
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DHCR24 24-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DNM2 dynamin 2
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DRD5 dopamine receptor D5
DST dystonin
DYM dymeclin
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
EFNB1 ephrin-B1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMD emerin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXOSC3 exosome component 3
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM20C family with sequence similarity 20, member C
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
FHL1 four and a half LIM domains 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FUCA1 fucosidase, alpha-L- 1, tissue
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GATA3 GATA binding protein 3
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GDAP1 ganglioside induced differentiation associated protein 1
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GLUL glutamate-ammonia ligase
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNPAT glyceronephosphate O-acyltransferase
GNS glucosamine (N-acetyl)-6-sulfatase
GPC3 glypican 3
GPC4 glypican 4
GSC goosecoid homeobox
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HES7 hes family bHLH transcription factor 7
HGD homogentisate 1,2-dioxygenase
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
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
INS insulin
IRF5 interferon regulatory factor 5
ITCH itchy E3 ubiquitin protein ligase
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
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
KDM5C lysine (K)-specific demethylase 5C
KIAA0319L KIAA0319-like
KIF5C kinesin family member 5C
KLHL41 kelch-like family member 41
KRT1 keratin 1, type II
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LARGE like-glycosyltransferase
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LEMD3 LEM domain containing 3
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LPIN2 lipin 2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
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
MLH1 mutL homolog 1
MMP2 matrix metallopeptidase 2
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYOT myotilin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
ND1
NDE1 nudE neurodevelopment protein 1
NEB nebulin
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
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
PCNA proliferating cell nuclear antigen
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX1 paired-like homeodomain 1
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRG4 proteoglycan 4
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
PTRF polymerase I and transcript release factor
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAPSN receptor-associated protein of the synapse
RBM28 RNA binding motif protein 28
RFC2 replication factor C (activator 1) 2, 40kDa
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SALL1 spalt-like transcription factor 1
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEPN1 selenoprotein N, 1
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SETBP1 SET binding protein 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
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
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMOC1 SPARC related modular calcium binding 1
SOX10 SRY (sex determining region Y)-box 10
SPEG SPEG complex locus
SPG20 spastic paraplegia 20 (Troyer syndrome)
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAC3 SH3 and cysteine rich domain 3
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TBX15 T-box 15
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
TMEM70 transmembrane protein 70
TNNI2 troponin I type 2 (skeletal, fast)
TNNT1 troponin T type 1 (skeletal, slow)
TNNT3 troponin T type 3 (skeletal, fast)
TNPO3 transportin 3
TNXB tenascin XB
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUBB3 tubulin, beta 3 class III
UBA1 ubiquitin-like modifier activating enzyme 1
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UROS uroporphyrinogen III synthase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WISP3 WNT1 inducible signaling pathway protein 3
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
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZMPSTE24 zinc metallopeptidase STE24
ZNF335 zinc finger protein 335
ZNF592 zinc finger protein 592