functional respiratory abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description This category describes not-primarily structural lesions. (Human Phenotype Ontology, HP_0002795)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002795
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Genes

505 genes associated with the functional respiratory abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACE angiotensin I converting enzyme
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTA1 actin, alpha 1, skeletal muscle
ACTA2 actin, alpha 2, smooth muscle, aorta
ACVR1 activin A receptor, type I
ACVRL1 activin A receptor type II-like 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTSL2 ADAMTS-like 2
ADCY6 adenylate cyclase 6
AGGF1 angiogenic factor with G patch and FHA domains 1
AGK acylglycerol kinase
AGRN agrin
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGXT alanine-glyoxylate aminotransferase
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALMS1 Alstrom syndrome protein 1
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ARL13B ADP-ribosylation factor-like 13B
ARMC4 armadillo repeat containing 4
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASCL1 achaete-scute family bHLH transcription factor 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
ATRX alpha thalassemia/mental retardation syndrome X-linked
B9D1 B9 protein domain 1
BAG3 BCL2-associated athanogene 3
BCHE butyrylcholinesterase
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BIN1 bridging integrator 1
BMPER BMP binding endothelial regulator
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BOLA3 bolA family member 3
BRAT1 BRCA1-associated ATM activator 1
BTD biotinidase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C21ORF59 chromosome 21 open reading frame 59
C5ORF42 chromosome 5 open reading frame 42
CA5A carbonic anhydrase VA, mitochondrial
CALR calreticulin
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC39 coiled-coil domain containing 39
CCDC65 coiled-coil domain containing 65
CCR6 chemokine (C-C motif) receptor 6
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CECR1 cat eye syndrome chromosome region, candidate 1
CEP126 centrosomal protein 126kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHMP2B charged multivesicular body protein 2B
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)
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN7 chloride channel, voltage-sensitive 7
CNTN1 contactin 1
CNTNAP1 contactin associated protein 1
COA5 cytochrome c oxidase assembly factor 5
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
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
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
COX7B cytochrome c oxidase subunit VIIb
CPOX coproporphyrinogen oxidase
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CRYAB crystallin, alpha B
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CSPP1 centrosome and spindle pole associated protein 1
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSD cathepsin D
CTSK cathepsin K
CUL7 cullin 7
CYB5A cytochrome b5 type A (microsomal)
CYB5R3 cytochrome b5 reductase 3
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DCTN1 dynactin 1
DES desmin
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAI1 dynein, axonemal, intermediate chain 1
DNAL1 dynein, axonemal, light chain 1
DNASE1L3 deoxyribonuclease I-like 3
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
DSC2 desmocollin 2
DST dystonin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYX1C1 dyslexia susceptibility 1 candidate 1
EDA ectodysplasin A
EDN3 endothelin 3
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFTUD2 elongation factor Tu GTP binding domain containing 2
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
EIF4A3 eukaryotic translation initiation factor 4A3
ENG endoglin
EPOR erythropoietin receptor
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ERF Ets2 repressor factor
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EXOSC3 exosome component 3
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FASTKD2 FAST kinase domains 2
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBP1 fructose-1,6-bisphosphatase 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHL1 four and a half LIM domains 1
FKBP10 FK506 binding protein 10, 65 kDa
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLNB filamin B, beta
FLNC filamin C, gamma
FOXF1 forkhead box F1
FOXG1 forkhead box G1
FOXI1 forkhead box I1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC3 glucose 6 phosphatase, catalytic, 3
GAA glucosidase, alpha; acid
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GDNF glial cell derived neurotrophic factor
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GLRA1 glycine receptor, alpha 1
GLUL glutamate-ammonia ligase
GM2A GM2 ganglioside activator
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBA1 hemoglobin, alpha 1
HBB hemoglobin, beta
HBG2 hemoglobin, gamma G
HCCS holocytochrome c synthase
HES7 hes family bHLH transcription factor 7
HEXA hexosaminidase A (alpha polypeptide)
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMBS hydroxymethylbilane synthase
HRAS Harvey rat sarcoma viral oncogene homolog
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HYDIN HYDIN, axonemal central pair apparatus protein
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IGHMBP2 immunoglobulin mu binding protein 2
IGHV4-34 immunoglobulin heavy variable 4-34
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL12B interleukin 12B
IL1RN interleukin 1 receptor antagonist
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INVS inversin
IRF5 interferon regulatory factor 5
ISCU iron-sulfur cluster assembly enzyme
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
JAK2 Janus kinase 2
JPH2 junctophilin 2
KAT6B K(lysine) acetyltransferase 6B
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIAA0319L KIAA0319-like
KIF7 kinesin family member 7
KLHL41 kelch-like family member 41
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
LAMA2 laminin, alpha 2
LAMA3 laminin, alpha 3
LBR lamin B receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRC6 leucine rich repeat containing 6
LYRM4 LYR motif containing 4
LYRM7 LYR motif containing 7
MAGEL2 melanoma antigen family L2
MAMLD1 mastermind-like domain containing 1
MATR3 matrin 3
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCM4 minichromosome maintenance complex component 4
MECP2 methyl CpG binding protein 2
MEGF10 multiple EGF-like-domains 10
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGME1 mitochondrial genome maintenance exonuclease 1
MID1 midline 1
MKS1 Meckel syndrome, type 1
MLX MLX, MAX dimerization protein
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MOGS mannosyl-oligosaccharide glucosidase
MPC1 mitochondrial pyruvate carrier 1
MPL MPL proto-oncogene, thrombopoietin receptor
MRPL3 mitochondrial ribosomal protein L3
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
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUSK muscle, skeletal, receptor tyrosine kinase
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAGS N-acetylglutamate synthase
NBN nibrin
ND1
NDN necdin, melanoma antigen (MAGE) family member
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEB nebulin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFU1 NFU1 iron-sulfur cluster scaffold
NKX2-1 NK2 homeobox 1
NME8 NME/NM23 family member 8
NOD2 nucleotide-binding oligomerization domain containing 2
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NRXN1 neurexin 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTNG1 netrin G1
NUBPL nucleotide binding protein-like
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
OTX2 orthodenticle homeobox 2
OXCT1 3-oxoacid CoA transferase 1
PAX3 paired box 3
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PET100 PET100 homolog (S. cerevisiae)
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
PEX7 peroxisomal biogenesis factor 7
PGM1 phosphoglucomutase 1
PHOX2B paired-like homeobox 2b
PHYH phytanoyl-CoA 2-hydroxylase
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PLCB4 phospholipase C, beta 4
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMK protein-O-mannose kinase
POMT2 protein-O-mannosyltransferase 2
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKCSH protein kinase C substrate 80K-H
PRNP prion protein
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRX1 paired related homeobox 1
PRTN3 proteinase 3
PSAP prosaposin
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
REN renin
RET ret proto-oncogene
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SARS2 seryl-tRNA synthetase 2, mitochondrial
SBDS Shwachman-Bodian-Diamond syndrome
SCARF2 scavenger receptor class F, member 2
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEC63 SEC63 homolog (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPN1 selenoprotein N, 1
SEPT9 septin 9
SF3B4 splicing factor 3b, subunit 4, 49kDa
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SFTPC surfactant protein C
SH2B3 SH2B adaptor protein 3
SH3BP2 SH3-domain binding protein 2
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMAD4 SMAD family member 4
SMN1 survival of motor neuron 1, telomeric
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOD1 superoxide dismutase 1, soluble
SOX9 SRY (sex determining region Y)-box 9
SPAG1 sperm associated antigen 1
SPEG SPEG complex locus
STAC3 SH3 and cysteine rich domain 3
STAT5B signal transducer and activator of transcription 5B
STRA6 stimulated by retinoic acid 6
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SURF1 surfeit 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TARDBP TAR DNA binding protein
TBX2 T-box 2
TBX4 T-box 4
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TET2 tet methylcytosine dioxygenase 2
TGFB1 transforming growth factor, beta 1
THPO thrombopoietin
TK2 thymidine kinase 2, mitochondrial
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNT1 troponin T type 1 (skeletal, slow)
TNPO3 transportin 3
TNXB tenascin XB
TPI1 triosephosphate isomerase 1
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TREX1 three prime repair exonuclease 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSFM Ts translation elongation factor, mitochondrial
TSPYL1 TSPY-like 1
TTC21B tetratricopeptide repeat domain 21B
TWIST1 twist family bHLH transcription factor 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE3B ubiquitin protein ligase E3B
VCL vinculin
VRK1 vaccinia related kinase 1
WAS Wiskott-Aldrich syndrome
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZC4H2 zinc finger, C4H2 domain containing
ZMPSTE24 zinc metallopeptidase STE24
ZMYND10 zinc finger, MYND-type containing 10
ZNF423 zinc finger protein 423