abnormality of the neck Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the neck. (Human Phenotype Ontology, HP_0000464)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000464
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG1 actin gamma 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDOA aldolase A, fructose-bisphosphate
AMER1 APC membrane recruitment protein 1
ANKRD11 ankyrin repeat domain 11
ANO3 anoctamin 3
ANTXR2 anthrax toxin receptor 2
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATN1 atrophin 1
ATP13A2 ATPase type 13A2
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
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
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
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
CAV3 caveolin 3
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
CFL2 cofilin 2 (muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
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
CLIP2 CAP-GLY domain containing linker protein 2
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
CP ceruloplasmin (ferroxidase)
CRBN cereblon
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CRYAB crystallin, alpha B
CTNND2 catenin (cadherin-associated protein), delta 2
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DHCR7 7-dehydrocholesterol reductase
DLL3 delta-like 3 (Drosophila)
DOK7 docking protein 7
DRD2 dopamine receptor D2
DYM dymeclin
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EFNB1 ephrin-B1
ELN elastin
EMD emerin
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
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
EYA1 EYA transcriptional coactivator and phosphatase 1
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
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC2 forkhead box C2
FTO fat mass and obesity associated
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA4 GATA binding protein 4
GCH1 GTP cyclohydrolase 1
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
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
HYLS1 hydrolethalus syndrome 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IGBP1 immunoglobulin (CD79A) binding protein 1
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
IRX5 iroquois homeobox 5
KAT6B K(lysine) acetyltransferase 6B
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
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
LBR lamin B receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LZTFL1 leucine zipper transcription factor-like 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPT microtubule-associated protein tau
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
MRPS16 mitochondrial ribosomal protein S16
MRPS22 mitochondrial ribosomal protein S22
MTM1 myotubularin 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBAS neuroblastoma amplified sequence
NBN nibrin
NEB nebulin
NF1 neurofibromin 1
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NOG noggin
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OBSL1 obscurin-like 1
OFD1 oral-facial-digital syndrome 1
PABPN1 poly(A) binding protein, nuclear 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PHF8 PHD finger protein 8
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PNKD paroxysmal nonkinesigenic dyskinesia
PNPLA2 patatin-like phospholipase domain containing 2
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRDM16 PR domain containing 16
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PTCH1 patched 1
PTEN phosphatase and tensin homolog
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
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RB1 retinoblastoma 1
RFC2 replication factor C (activator 1) 2, 40kDa
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
SCP2 sterol carrier protein 2
SDCCAG8 serologically defined colon cancer antigen 8
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPN1 selenoprotein N, 1
SETBP1 SET binding protein 1
SGCE sarcoglycan, epsilon
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
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
SMS spermine synthase
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
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TBL2 transducin (beta)-like 2
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)
TGM6 transglutaminase 6
THAP1 THAP domain containing, apoptosis associated protein 1
TMCO1 transmembrane and coiled-coil domains 1
TMEM43 transmembrane protein 43
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TOR1A torsin family 1, member A (torsin A)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
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
TTN titin
TUBB4A tubulin, beta 4A class IVa
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
WDR81 WD repeat domain 81
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
ZDHHC15 zinc finger, DHHC-type containing 15
ZMPSTE24 zinc metallopeptidase STE24