abnormality of connective tissue Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). (Human Phenotype Ontology, HP_0003549)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003549
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABHD12 abhydrolase domain containing 12
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ACTN2 actinin, alpha 2
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ALX3 ALX homeobox 3
AMER1 APC membrane recruitment protein 1
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
ANKH ANKH inorganic pyrophosphate transport regulator
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
APC adenomatous polyposis coli
AR androgen receptor
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATP10A ATPase, class V, type 10A
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATR ATR serine/threonine kinase
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
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
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BHLHA9 basic helix-loop-helix family, member a9
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
BLNK B-cell linker
BMP1 bone morphogenetic protein 1
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
C19ORF12 chromosome 19 open reading frame 12
C2ORF71 chromosome 2 open reading frame 71
C5ORF42 chromosome 5 open reading frame 42
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CANT1 calcium activated nucleotidase 1
CAPN3 calpain 3, (p94)
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCR6 chemokine (C-C motif) receptor 6
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD96 CD96 molecule
CDC6 cell division cycle 6
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CDT1 chromatin licensing and DNA replication factor 1
CECR1 cat eye syndrome chromosome region, candidate 1
CERKL ceramide kinase-like
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
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
CHUK conserved helix-loop-helix ubiquitous kinase
CLCF1 cardiotrophin-like cytokine factor 1
CLDN19 claudin 19
CLIC2 chloride intracellular channel 2
CLIP2 CAP-GLY domain containing linker protein 2
CLMP CXADR-like membrane protein
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNTN1 contactin 1
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, alpha 1
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CRX cone-rod homeobox
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTGF connective tissue growth factor
CTNND2 catenin (cadherin-associated protein), delta 2
CUL4B cullin 4B
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DDIT3 DNA-damage-inducible transcript 3
DDR2 discoidin domain receptor tyrosine kinase 2
DES desmin
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOK7 docking protein 7
DOLK dolichol kinase
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
DSE dermatan sulfate epimerase
DSG2 desmoglein 2
DST dystonin
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYSF dysferlin
ECE1 endothelin converting enzyme 1
ECEL1 endothelin converting enzyme-like 1
ECM1 extracellular matrix protein 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMD emerin
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
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
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM161A family with sequence similarity 161, member A
FAM20C family with sequence similarity 20, member C
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
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLCN folliculin
FLNA filamin A, alpha
FLNB filamin B, beta
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FOS FBJ murine osteosarcoma viral oncogene homolog
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FSCN2 fascin actin-bundling protein 2, retinal
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA2 GATA binding protein 2
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GATAD1 GATA zinc finger domain containing 1
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
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GLUL glutamate-ammonia ligase
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GORAB golgin, RAB6-interacting
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GPHN gephyrin
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HESX1 HESX homeobox 1
HFE hemochromatosis
HGD homogentisate 1,2-dioxygenase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIC1 hypermethylated in cancer 1
HIRA histone cell cycle regulator
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
HYLS1 hydrolethalus syndrome 1
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT80 intraflagellar transport 80
IGF2 insulin-like growth factor 2
IGHM immunoglobulin heavy constant mu
IGHMBP2 immunoglobulin mu binding protein 2
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IMPAD1 inositol monophosphatase domain containing 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
INSR insulin receptor
IRF5 interferon regulatory factor 5
IRX5 iroquois homeobox 5
ITCH itchy E3 ubiquitin protein ligase
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
IYD iodotyrosine deiodinase
KAT6B K(lysine) acetyltransferase 6B
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA0319L KIAA0319-like
KIF11 kinesin family member 11
KIF5C kinesin family member 5C
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KIZ kizuna centrosomal protein
KLHL41 kelch-like family member 41
KLHL7 kelch-like family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRT1 keratin 1, type II
KRT14 keratin 14, type I
KRT5 keratin 5, type II
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LAMA4 laminin, alpha 4
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LARGE like-glycosyltransferase
LBR lamin B receptor
LCK LCK proto-oncogene, Src family tyrosine kinase
LDB3 LIM domain binding 3
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LMNB2 lamin B2
LPIN2 lipin 2
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP2 low density lipoprotein receptor-related protein 2
LRRC8A leucine rich repeat containing 8 family, member A
LTBP4 latent transforming growth factor beta binding protein 4
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAGEL2 melanoma antigen family L2
MAK male germ cell-associated kinase
MAN2B1 mannosidase, alpha, class 2B, member 1
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MEIS2 Meis homeobox 2
MEN1 multiple endocrine neoplasia I
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGP matrix Gla protein
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MPST mercaptopyruvate sulfurtransferase
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-TK tRNA
MT-TL1 tRNA
MT-TP 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
MYBPC3 myosin binding protein C, cardiac
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYOT myotilin
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCSTN nicastrin
ND1
NDE1 nudE neurodevelopment protein 1
NEB nebulin
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NEXN nexilin (F actin binding protein)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH3 notch 3
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
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
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCA2 oculocutaneous albinism II
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
P3H1 prolyl 3-hydroxylase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PCNA proliferating cell nuclear antigen
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX5 peroxisomal biogenesis factor 5
PEX7 peroxisomal biogenesis factor 7
PHEX phosphate regulating endopeptidase homolog, X-linked
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
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITX1 paired-like homeodomain 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLIN1 perilipin 1
PLN phospholamban
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
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)
POU1F1 POU class 1 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRG4 proteoglycan 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROM1 prominin 1
PROP1 PROP paired-like homeobox 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PSAT1 phosphoserine aminotransferase 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
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)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RBM20 RNA binding motif protein 20
RBM28 RNA binding motif protein 28
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RIN2 Ras and Rab interactor 2
RLBP1 retinaldehyde binding protein 1
RNR1 RNA, ribosomal cluster 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
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
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH2B1 SH2B adaptor protein 1
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
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
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC7A14 solute carrier family 7, member 14
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
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
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX18 SRY (sex determining region Y)-box 18
SPATA7 spermatogenesis associated 7
SPEG SPEG complex locus
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPRED1 sprouty-related, EVH1 domain containing 1
SRCAP Snf2-related CREBBP activator protein
SRD5A3 steroid 5 alpha-reductase 3
STAC3 SH3 and cysteine rich domain 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STRA6 stimulated by retinoic acid 6
SULF1 sulfatase 1
TAZ tafazzin
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TCAP titin-cap
TCF3 transcription factor 3
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TMPO thymopoietin
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNNC1 troponin C type 1 (slow)
TNNI2 troponin I type 2 (skeletal, fast)
TNNI3 troponin I type 3 (cardiac)
TNNT1 troponin T type 1 (skeletal, slow)
TNNT2 troponin T type 2 (cardiac)
TNNT3 troponin T type 3 (skeletal, fast)
TNPO3 transportin 3
TNXB tenascin XB
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TPI1 triosephosphate isomerase 1
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TPO thyroid peroxidase
TREM2 triggering receptor expressed on myeloid cells 2
TRHR thyrotropin-releasing hormone receptor
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TTC7A tetratricopeptide repeat domain 7A
TTC8 tetratricopeptide repeat domain 8
TTN titin
TUB tubby bipartite transcription factor
TUBB3 tubulin, beta 3 class III
TULP1 tubby like protein 1
TXNRD2 thioredoxin reductase 2
TYROBP TYRO protein tyrosine kinase binding protein
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3A ubiquitin protein ligase E3A
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VCL vinculin
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
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
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1
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
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XYLT1 xylosyltransferase I
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB1 zinc finger E-box binding homeobox 1
ZFPM2 zinc finger protein, FOG family member 2
ZMPSTE24 zinc metallopeptidase STE24
ZNF335 zinc finger protein 335
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592