autosomal recessive disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (Human Disease Ontology, DOID_0050737)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:0050737
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Genes

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

Symbol Name Standardized Value
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 2.21978
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 2.10656
OR51B5 olfactory receptor, family 51, subfamily B, member 5 2.04826
HBB hemoglobin, beta 1.88403
UBQLNL ubiquilin-like 1.70759
HBG1 hemoglobin, gamma A 1.68221
OR51F1 olfactory receptor, family 51, subfamily F, member 1 (gene/pseudogene) 1.5255
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 1.43576
OR52I2 olfactory receptor, family 52, subfamily I, member 2 1.41111
CSNK2A1 casein kinase 2, alpha 1 polypeptide 1.20012
OR51E2 olfactory receptor, family 51, subfamily E, member 2 1.17176
OR51I1 olfactory receptor, family 51, subfamily I, member 1 1.10965
RRM1 ribonucleotide reductase M1 1.03959
STIM1 stromal interaction molecule 1 1.00369
OR51B6 olfactory receptor, family 51, subfamily B, member 6 0.966493
HBBP1 hemoglobin, beta pseudogene 1 0.917276
PCIF1 PDX1 C-terminal inhibiting factor 1 0.903348
NAP1L4 nucleosome assembly protein 1-like 4 0.889477
CSMD1 CUB and Sushi multiple domains 1 0.828623
HBZ hemoglobin, zeta 0.750134
SYT9 synaptotagmin IX 0.710981
CT83 cancer/testis antigen 83 0.668171
SLC26A9 solute carrier family 26 (anion exchanger), member 9 0.474311
OTUD3 OTU deubiquitinase 3 0.471307
RFX3 regulatory factor X, 3 (influences HLA class II expression) 0.451581
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) 0.444585
ADGRL3 adhesion G protein-coupled receptor L3 0.440033
MCC mutated in colorectal cancers 0.438494
CDH9 cadherin 9, type 2 (T1-cadherin) 0.437349
NCKAP1L NCK-associated protein 1-like 0.433661
AGTR2 angiotensin II receptor, type 2 0.430311
ZBED9 zinc finger, BED-type containing 9 0.429365
PHEX phosphate regulating endopeptidase homolog, X-linked 0.425585
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.4246
PHACTR1 phosphatase and actin regulator 1 0.42331
HYKK hydroxylysine kinase 0.423075
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.422458
AHRR aryl-hydrocarbon receptor repressor 0.422054
IFRD1 interferon-related developmental regulator 1 0.422054
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 0.422054
CDH26 cadherin 26 0.420349
CLEC12B C-type lectin domain family 12, member B 0.419335
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 0.418882
HK2 hexokinase 2 0.417246
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 0.417062
THRB thyroid hormone receptor, beta 0.414949
NLGN4X neuroligin 4, X-linked 0.413507
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3 0.413127
PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 0.413127
SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 0.410595
BMPR1A bone morphogenetic protein receptor, type IA 0.410414
MAP2K5 mitogen-activated protein kinase kinase 5 0.410249
IL17RD interleukin 17 receptor D 0.410099
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 0.410099
DSCAM Down syndrome cell adhesion molecule 0.40906
TMEM233 transmembrane protein 233 0.407981
SYCE3 synaptonemal complex central element protein 3 0.406348
PRMT8 protein arginine methyltransferase 8 0.406229
ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 0.404654
CNTN4 contactin 4 0.403523
SPRED3 sprouty-related, EVH1 domain containing 3 0.403132
NRP1 neuropilin 1 0.402846
SNX29 sorting nexin 29 0.401752
DRD2 dopamine receptor D2 0.400248
CDH13 cadherin 13 0.399857
PPAP2B phosphatidic acid phosphatase type 2B 0.39955
MED27 mediator complex subunit 27 0.398316
PAX8 paired box 8 0.397436
ASUN asunder spermatogenesis regulator 0.396982
USP43 ubiquitin specific peptidase 43 0.39676
WWOX WW domain containing oxidoreductase 0.395827
RAD51B RAD51 paralog B 0.393975
SVIL supervillin 0.393789
SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 0.390124
RNF220 ring finger protein 220 0.389974
JAKMIP1 janus kinase and microtubule interacting protein 1 0.389729
KLHL33 kelch-like family member 33 0.389153
UROC1 urocanate hydratase 1 0.385867
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 0.384888
C14ORF132 chromosome 14 open reading frame 132 0.384253
CDKN2B-AS1 CDKN2B antisense RNA 1 0.383941
LOC643542 uncharacterized LOC643542 0.382746
ACAN aggrecan 0.378329
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.357293