Congenital Absence Of Spleen Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0600031
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Genes

80 genes associated with the disease Congenital Absence Of Spleen in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
AIRE autoimmune regulator
ARMC4 armadillo repeat containing 4
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
C11ORF70 chromosome 11 open reading frame 70
CC2D2A coiled-coil and C2 domain containing 2A
CCDC103 coiled-coil domain containing 103
CCDC151 coiled-coil domain containing 151
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CEP290 centrosomal protein 290kDa
CEP55 centrosomal protein 55kDa
CFAP298 cilia and flagella associated protein 298
CSPP1 centrosome and spindle pole associated protein 1
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF4 dynein axonemal assembly factor 4
DNAAF5 dynein, axonemal, assembly factor 5
DNAH1 dynein, axonemal, heavy chain 1
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAJB13 DnaJ (Hsp40) homolog, subfamily B, member 13
DNAL1 dynein, axonemal, light chain 1
DRC1 dynein regulatory complex subunit 1
FOXF1 forkhead box F1
GAS2L2 growth arrest-specific 2 like 2
GAS8 growth arrest-specific 8
GDF1 growth differentiation factor 1
GUCY2C guanylate cyclase 2C
HLX H2.0-like homeobox
HMOX1 heme oxygenase 1
HP haptoglobin
HYDIN HYDIN, axonemal central pair apparatus protein
LRRC56 leucine rich repeat containing 56
LRRC6 leucine rich repeat containing 6
MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein
MKS1 Meckel syndrome, type 1
MPO myeloperoxidase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NKX2-5 NK2 homeobox 5
NME8 NME/NM23 family member 8
NPHP3 nephronophthisis 3 (adolescent)
NR5A1 nuclear receptor subfamily 5, group A, member 1
ODAD1 outer dynein arm docking complex subunit 1
OFD1 oral-facial-digital syndrome 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PBX1 pre-B-cell leukemia homeobox 1
PIH1D3 PIH1 domain containing 3
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPSA ribosomal protein SA
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH3 radial spoke 3 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SPAG1 sperm associated antigen 1
STIM1 stromal interaction molecule 1
STK36 serine/threonine kinase 36
TCTEX1D2 Tctex1 domain containing 2
TCTN2 tectonic family member 2
TMEM107 transmembrane protein 107
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TTC25 tetratricopeptide repeat domain 25
TWIST1 twist family bHLH transcription factor 1
WDPCP WD repeat containing planar cell polarity effector
WNT3 wingless-type MMTV integration site family, member 3
ZEB2 zinc finger E-box binding homeobox 2
ZIC3 Zic family member 3
ZMYND10 zinc finger, MYND-type containing 10