monogenic disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). (Human Disease Ontology, DOID_0050177)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0050177
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Genes

232 genes associated with the disease monogenic disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
F7 coagulation factor VII (serum prothrombin conversion accelerator) 2.49365
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 1.77532
IRF4 interferon regulatory factor 4 1.73773
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 1.70925
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 1.67815
F10 coagulation factor X 1.63716
SURF4 surfeit 4 1.58758
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.56141
OR51B5 olfactory receptor, family 51, subfamily B, member 5 1.49299
FANCA Fanconi anemia, complementation group A 1.48953
HBB hemoglobin, beta 1.30691
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 1.25005
HNF4A hepatocyte nuclear factor 4, alpha 1.07133
UBQLNL ubiquilin-like 1.03665
PROCR protein C receptor, endothelial 0.988839
HBG1 hemoglobin, gamma A 0.965063
GCKR glucokinase (hexokinase 4) regulator 0.661265
OR51F1 olfactory receptor, family 51, subfamily F, member 1 (gene/pseudogene) 0.658269
CNOT1 CCR4-NOT transcription complex, subunit 1 0.583095
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 0.577582
OR52I2 olfactory receptor, family 52, subfamily I, member 2 0.560012
CEP85L centrosomal protein 85kDa-like 0.502109
VWF von Willebrand factor 0.482818
CSNK2A1 casein kinase 2, alpha 1 polypeptide 0.473818
OR51E2 olfactory receptor, family 51, subfamily E, member 2 0.470385
OR51I1 olfactory receptor, family 51, subfamily I, member 1 0.463912
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.463426
RNF207 ring finger protein 207 0.459441
RRM1 ribonucleotide reductase M1 0.45801
STIM1 stromal interaction molecule 1 0.454655
OR51B6 olfactory receptor, family 51, subfamily B, member 6 0.451105
ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide 0.45009
HBBP1 hemoglobin, beta pseudogene 1 0.444644
PCIF1 PDX1 C-terminal inhibiting factor 1 0.442796
NAP1L4 nucleosome assembly protein 1-like 4 0.440838
SCN5A sodium channel, voltage gated, type V alpha subunit 0.438494
CSMD1 CUB and Sushi multiple domains 1 0.433084
EIF6 eukaryotic translation initiation factor 6 0.43035
HBZ hemoglobin, zeta 0.424222
SYT9 synaptotagmin IX 0.419888
CT83 cancer/testis antigen 83 0.414454
LIG3 ligase III, DNA, ATP-dependent 0.403612
TYR tyrosinase 0.395491
SURF2 surfeit 2 0.393237
EPB41L4A erythrocyte membrane protein band 4.1 like 4A 0.391053
WWOX WW domain containing oxidoreductase 0.390088
NRP1 neuropilin 1 0.374283
BNC2 basonuclin 2 0.37196
SOX5 SRY (sex determining region Y)-box 5 0.357525
APOA5 apolipoprotein A-V 0.352418
AKAP6 A kinase (PRKA) anchor protein 6 0.35001
RYR1 ryanodine receptor 1 (skeletal) 0.344196
SLC26A9 solute carrier family 26 (anion exchanger), member 9 0.339639
COL17A1 collagen, type XVII, alpha 1 0.337331
OTUD3 OTU deubiquitinase 3 0.334833
FADS1 fatty acid desaturase 1 0.329437
ESRRG estrogen-related receptor gamma 0.320318
LMNTD2 lamin tail domain containing 2 0.308824
ZPR1 ZPR1 zinc finger 0.308458
RFX3 regulatory factor X, 3 (influences HLA class II expression) 0.306825
PRKCQ protein kinase C, theta 0.305654
C18ORF21 chromosome 18 open reading frame 21 0.304137
TCL6 T-cell leukemia/lymphoma 6 (non-protein coding) 0.301101
DPT dermatopontin 0.300595
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 0.298636
BUD13 BUD13 homolog (S. cerevisiae) 0.297558
TMEM44 transmembrane protein 44 0.296563
ARHGAP10 Rho GTPase activating protein 10 0.296563
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 0.296563
PTPRG protein tyrosine phosphatase, receptor type, G 0.294775
FGF1 fibroblast growth factor 1 (acidic) 0.294775
ADGRL3 adhesion G protein-coupled receptor L3 0.293503
RPRD1A regulation of nuclear pre-mRNA domain containing 1A 0.292626
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 0.291804
PDE3A phosphodiesterase 3A, cGMP-inhibited 0.291804
MCC mutated in colorectal cancers 0.291804
CDH9 cadherin 9, type 2 (T1-cadherin) 0.290541
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 0.289391
NCKAP1L NCK-associated protein 1-like 0.286456
CNKSR3 CNKSR family member 3 0.283528
IL5RA interleukin 5 receptor, alpha 0.282366
ELMO1 engulfment and cell motility 1 0.282366
TRPM7 transient receptor potential cation channel, subfamily M, member 7 0.282366
CLDN15 claudin 15 0.282366
TTN titin 0.282366
ASIC2 acid sensing (proton gated) ion channel 2 0.282366
AGTR2 angiotensin II receptor, type 2 0.282366
LDLRAD3 low density lipoprotein receptor class A domain containing 3 0.281662
ZBED9 zinc finger, BED-type containing 9 0.281063
EXT1 exostosin glycosyltransferase 1 0.277651
PAIP2B poly(A) binding protein interacting protein 2B 0.277245
STAB2 stabilin 2 0.275929
OSBPL6 oxysterol binding protein-like 6 0.275929
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 0.275929
PHEX phosphate regulating endopeptidase homolog, X-linked 0.275929
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.274669
ZNF204P zinc finger protein 204, pseudogene 0.273732
RBMS3 RNA binding motif, single stranded interacting protein 3 0.273152
PHACTR1 phosphatase and actin regulator 1 0.273022
HYKK hydroxylysine kinase 0.272721
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.271934
FBXL18 F-box and leucine-rich repeat protein 18 0.271774
CCND2 cyclin D2 0.271419
AHRR aryl-hydrocarbon receptor repressor 0.271419
PDZRN3 PDZ domain containing ring finger 3 0.271419
CNTNAP2 contactin associated protein-like 2 0.271419
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 0.271419
IFRD1 interferon-related developmental regulator 1 0.271419
DYSF dysferlin 0.270659
CDH26 cadherin 26 0.269245
ANKRD6 ankyrin repeat domain 6 0.267953
CLEC12B C-type lectin domain family 12, member B 0.267953
CLDN14 claudin 14 0.267953
PHF11 PHD finger protein 11 0.267953
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 0.267376
HK2 hexokinase 2 0.265347
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.265141
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.265141
FOXP1 forkhead box P1 0.265141
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.265141
SCN11A sodium channel, voltage gated, type XI alpha subunit 0.264912
THRB thyroid hormone receptor, beta 0.262778
LDB2 LIM domain binding 2 0.262778
NLGN4X neuroligin 4, X-linked 0.261166
MARCH1 membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0.260952
ADAMTSL1 ADAMTS-like 1 0.260741
PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 0.260741
PRKCE protein kinase C, epsilon 0.260741
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase 0.260741
VAV2 vav 2 guanine nucleotide exchange factor 0.260741
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 0.260741
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.260741
FGF14 fibroblast growth factor 14 0.260741
TDP2 tyrosyl-DNA phosphodiesterase 2 0.258953
MBP myelin basic protein 0.258953
CREBBP CREB binding protein 0.258953
SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 0.257844
BMPR1A bone morphogenetic protein receptor, type IA 0.257609
NME7 NME/NM23 family member 7 0.257483
NUAK1 NUAK family, SNF1-like kinase, 1 0.257465
MAP2K5 mitogen-activated protein kinase kinase 5 0.257394
DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 0.257376
UNC13C unc-13 homolog C (C. elegans) 0.257341
IL17RD interleukin 17 receptor D 0.2572
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.2572
FRMD6 FERM domain containing 6 0.2572
SHISA9 shisa family member 9 0.256343
DSCAM Down syndrome cell adhesion molecule 0.255849
TMEM233 transmembrane protein 233 0.254449
ARMC2 armadillo repeat containing 2 0.254153
NCOA2 nuclear receptor coactivator 2 0.253577
SYCE3 synaptonemal complex central element protein 3 0.252613
PRMT8 protein arginine methyltransferase 8 0.25248
NCAM2 neural cell adhesion molecule 2 0.251829
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.250719
CNTN4 contactin 4 0.249455
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.249126
SPRED3 sprouty-related, EVH1 domain containing 3 0.249018
SNX29 sorting nexin 29 0.247475
CTNNA3 catenin (cadherin-associated protein), alpha 3 0.246708
DRD2 dopamine receptor D2 0.245796
CDH13 cadherin 13 0.245358
KCNB2 potassium channel, voltage gated Shab related subfamily B, member 2 0.245187
PPAP2B phosphatidic acid phosphatase type 2B 0.245017
MED27 mediator complex subunit 27 0.243638
ESR1 estrogen receptor 1 0.24356
NKX2-5 NK2 homeobox 5 0.243027
PAX8 paired box 8 0.242657
ASUN asunder spermatogenesis regulator 0.242152
USP43 ubiquitin specific peptidase 43 0.24194
CALCR calcitonin receptor 0.241731
RAD51B RAD51 paralog B 0.239293
SVIL supervillin 0.239115
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) 0.238881
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila) 0.237651
SCARA3 scavenger receptor class A, member 3 0.236966
DPYD dihydropyrimidine dehydrogenase 0.235725
SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 0.235629
RNF220 ring finger protein 220 0.235487
JAKMIP1 janus kinase and microtubule interacting protein 1 0.235254
KLHL33 kelch-like family member 33 0.234706
AJAP1 adherens junctions associated protein 1 0.234395
NRG1 neuregulin 1 0.232845
SLC35F3 solute carrier family 35, member F3 0.232489
PACSIN1 protein kinase C and casein kinase substrate in neurons 1 0.232411
MCTP2 multiple C2 domains, transmembrane 2 0.23218
SEZ6L seizure related 6 homolog (mouse)-like 0.231578
UROC1 urocanate hydratase 1 0.231578
LOC145845 uncharacterized LOC145845 0.231431
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 0.230647
C16ORF45 chromosome 16 open reading frame 45 0.230302
NELL1 NEL-like 1 (chicken) 0.230099
C14ORF132 chromosome 14 open reading frame 132 0.230065
CDKN2B-AS1 CDKN2B antisense RNA 1 0.229775
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 0.229703
PPP6R1 protein phosphatase 6, regulatory subunit 1 0.22949
XDH xanthine dehydrogenase 0.22914
LOC643542 uncharacterized LOC643542 0.228662
CHN2 chimerin 2 0.228197
PPARD peroxisome proliferator-activated receptor delta 0.227905
KCNK1 potassium channel, two pore domain subfamily K, member 1 0.227272
ERBB4 erb-b2 receptor tyrosine kinase 4 0.22721
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.226336
ACAN aggrecan 0.224551
TUSC3 tumor suppressor candidate 3 0.224498
CDHR5 cadherin-related family member 5 0.224288
MPZL1 myelin protein zero-like 1 0.224106
C11ORF44 chromosome 11 open reading frame 44 0.223698
SPATA17 spermatogenesis associated 17 0.223498
LHFPL3 lipoma HMGIC fusion partner-like 3 0.22239
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.221862
CDH18 cadherin 18, type 2 0.221284
TMEM258 transmembrane protein 258 0.22081
GLRX3 glutaredoxin 3 0.220143
PSORS1C3 psoriasis susceptibility 1 candidate 3 (non-protein coding) 0.21974
DCDC2 doublecortin domain containing 2 0.218621
COL25A1 collagen, type XXV, alpha 1 0.218325
KCNIP4 Kv channel interacting protein 4 0.218016
FHIT fragile histidine triad 0.217927
LIN7A lin-7 homolog A (C. elegans) 0.217766
FADS2 fatty acid desaturase 2 0.217537
CORIN corin, serine peptidase 0.217329
C11ORF21 chromosome 11 open reading frame 21 0.212041
USP31 ubiquitin specific peptidase 31 0.211423
TCEA3 transcription elongation factor A (SII), 3 0.208951
LPP LIM domain containing preferred translocation partner in lipoma 0.208037
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.205567
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 0.193974
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 0.188241
ASTN1 astrotactin 1 0.187581
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 0.185714
LYRM4 LYR motif containing 4 0.184137