short neck Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Diminished length of the neck. (Human Phenotype Ontology, HP_0000470)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000470
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACTB actin, beta
ACTG1 actin gamma 1
ALDOA aldolase A, fructose-bisphosphate
ANKRD11 ankyrin repeat domain 11
ANTXR2 anthrax toxin receptor 2
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
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
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CANT1 calcium activated nucleotidase 1
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCDC22 coiled-coil domain containing 22
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CEP290 centrosomal protein 290kDa
CHL1 cell adhesion molecule L1-like
CHN1 chimerin 1
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMT catechol-O-methyltransferase
CRBN cereblon
CRLF1 cytokine receptor-like factor 1
CTNND2 catenin (cadherin-associated protein), delta 2
CUL7 cullin 7
DHCR7 7-dehydrocholesterol reductase
DLL3 delta-like 3 (Drosophila)
DOK7 docking protein 7
DYM dymeclin
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EFNB1 ephrin-B1
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
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FAM20C family with sequence similarity 20, member C
FBN2 fibrillin 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FHL1 four and a half LIM domains 1
FLNB filamin B, beta
FTO fat mass and obesity associated
GATA4 GATA binding protein 4
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GNAS GNAS complex locus
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GUSB glucuronidase, beta
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HIRA histone cell cycle regulator
HNF1B HNF1 homeobox B
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IGBP1 immunoglobulin (CD79A) binding protein 1
INPPL1 inositol polyphosphate phosphatase-like 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIAA0196 KIAA0196
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LIFR leukemia inhibitory factor receptor alpha
LZTFL1 leucine zipper transcription factor-like 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MPL MPL proto-oncogene, thrombopoietin receptor
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NBAS neuroblastoma amplified sequence
NBN nibrin
NF1 neurofibromin 1
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
OBSL1 obscurin-like 1
OFD1 oral-facial-digital syndrome 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PTCH1 patched 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RB1 retinoblastoma 1
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SETBP1 SET binding protein 1
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOX9 SRY (sex determining region Y)-box 9
SPRED1 sprouty-related, EVH1 domain containing 1
SRCAP Snf2-related CREBBP activator protein
TBX1 T-box 1
TBX6 T-box 6
TCF4 transcription factor 4
TCTN2 tectonic family member 2
TECPR2 tectonin beta-propeller repeat containing 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMCO1 transmembrane and coiled-coil domains 1
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRAPPC2 trafficking protein particle complex 2
TRAPPC9 trafficking protein particle complex 9
TRIM32 tripartite motif containing 32
TRIP11 thyroid hormone receptor interactor 11
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC8 tetratricopeptide repeat domain 8
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR35 WD repeat domain 35
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