autosomal recessive disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
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)
Similar Terms
Downloads & Tools

Genes

147 genes involed in the disease autosomal recessive disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACAT1 acetyl-CoA acetyltransferase 1
ACSL4 acyl-CoA synthetase long-chain family member 4
ADAR adenosine deaminase, RNA-specific
ADGRV1 adhesion G protein-coupled receptor V1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALMS1 Alstrom syndrome protein 1
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARL6 ADP-ribosylation factor-like 6
ARMC4 armadillo repeat containing 4
ATM ATM serine/threonine kinase
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
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BLM Bloom syndrome, RecQ helicase-like
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
C21ORF59 chromosome 21 open reading frame 59
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC28B coiled-coil domain containing 28B
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CDH23 cadherin-related 23
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CLRN1 clarin 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DDB2 damage-specific DNA binding protein 2, 48kDa
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAH8 dynein, axonemal, heavy chain 8
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DRC1 dynein regulatory complex subunit 1
DTNBP1 dystrobrevin binding protein 1
DYX1C1 dyslexia susceptibility 1 candidate 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
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
F2 coagulation factor II (thrombin)
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
GLIS2 GLIS family zinc finger 2
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
HYDIN HYDIN, axonemal central pair apparatus protein
IFIH1 interferon induced with helicase C domain 1
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
INVS inversin
IQCB1 IQ motif containing B1
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KIF7 kinesin family member 7
LMNA lamin A/C
LRRC6 leucine rich repeat containing 6
LYST lysosomal trafficking regulator
LZTFL1 leucine zipper transcription factor-like 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MYH9 myosin, heavy chain 9, non-muscle
MYO7A myosin VIIA
NBN nibrin
NEK8 NIMA-related kinase 8
NIPAL4 NIPA-like domain containing 4
NME8 NME/NM23 family member 8
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
OCA2 oculocutaneous albinism II
OFD1 oral-facial-digital syndrome 1
PCDH15 protocadherin-related 15
POLH polymerase (DNA directed), eta
POR P450 (cytochrome) oxidoreductase
RECQL4 RecQ protein-like 4
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RPGR retinitis pigmentosa GTPase regulator
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SAMHD1 SAM domain and HD domain 1
SDCCAG8 serologically defined colon cancer antigen 8
SLC45A2 solute carrier family 45, member 2
SPAG1 sperm associated antigen 1
SPINK5 serine peptidase inhibitor, Kazal type 5
TGM1 transglutaminase 1
TMEM67 transmembrane protein 67
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UMOD uromodulin
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WRN Werner syndrome, RecQ helicase-like
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial
ZMYND10 zinc finger, MYND-type containing 10
ZNF169 zinc finger protein 169
ZNF423 zinc finger protein 423