Genes associated with “ABCA6

1153 genes foundOpen Targets: serum albumin amount11 ClinVar P/LP variants
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
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Strong Candidates

2 genes
1
ABCA6

ATP binding cassette subfamily A member 6

26
score

ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 6; ABCA6

Frequency
-
P/LP Variants
11
OT Score
0.61
2
TNFRSF13B

TNF receptor superfamily member 13B

20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.66

Consider

710 genes

WD repeat domain, phosphoinositide interacting 1

CD300 molecule like family member f

19BPTF
Def

serpin family F member 2

17PRKAR1A
Def

heparan sulfate-glucosamine 3-sulfotransferase 3B1

15MYO1C
Dis

myosin IC

WD repeat domain 81

15AXIN2
Def
15SOX9
Def
15TBX4
Def
14COL1A1
Def
14EFTUD2
Def
14KANSL1
Def
14NOG
Def
14RAD51C
Def
14ALB
Def

albumin

ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 10; ABCA10

ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 8; ABCA8

ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 9; ABCA9

13ACE
Def
13ACOX1
Def
13ACTG1
Def
13BRIP1
Def
13CANT1
Def
13CCDC40
Def
13CD79B
Def
13DNAH17
Def
13DNAI2
Def
13FDXR
Def
13FOXJ1
Def
13GAA
DefSF
13GALK1
Def
13HNF1B
Def
13KCNJ16
Def
13MED13
Def
13PDE6G
Def
13PPM1D
Def
13PSMD12
Def
13PYCR1
Def
13RHBDF2
Def
13SCN4A
Def
13SGSH
Def
13TACO1
Def
13TANC2
Def
13TBCD
Def
13TLK2
Def
13TMEM94
Def
13UNC13D
Def
13USH1G
Def
12DGKE
Def
12DNAAF19
Def
12GFAP
Def
12GOSR2
Def
12ITGA3
Def
12ITGB3
Def
12MKS1
Def
12PNPO
Def
12RNF43
Def
12SGCA
Def
12SMG8
Def
12SPOP
Def
12TRIM37
Def
12ARHGDIA
Mod
12COG1
Mod
12EXOC7
Mod
12KCNJ2
Mod
12NDUFAF8
Mod
12RGS9
Mod
12SEPTIN9
Mod
11DLG4
Def
11NF1
Def
11PMP22
Def
11RAD51D
Def
11RAI1
Def
11TAOK1
Def
11TP53
DefSF
11MAP3K14
Mod
11PLEKHM1
Mod
11TCIRG1
Def

T cell immune regulator 1, ATPase H+ transporting V0 subunit a3

11IRF4
Def

interferon regulatory factor 4

11BRCA1
DefSF
11CAVIN1
Def
11G6PC1
Def
11G6PC3
Def
11GPR179
Def
11GRN
Def
11ITGA2B
Def
11MRPS7
Lim
11NAGLU
Def
11NAGS
Def
11NPTX1
Lim
11ODAD4
Def
11PGAP3
Def
11RPS6KB1
Lim
11SMARCE1
Def
11STAT3
Def
11STAT5B
Def
11TCAP
Def
11TUBG1
Def
11UBTF
Def
11WBP2
Lim
10HGF
Mod

hepatocyte growth factor

10COX11
Lim
10CA4
10CD7
10GH1
10GH2
10IKZF3
Mod
10PCGF2
Str
10RBFOX3
Dis
10TK1

IQ motif containing GTPase activating protein 2

Fc gamma receptor and transporter

9ACADVL
Def
9AIPL1
Def
9ASPA
Def
9B9D1
Def
9C1QBP
Def
9CHD3
Def
9CHRNB1
Def
9COX10
Def
9CTC1
Def
9CTNS
Def
9DNAH9
Def
9DPH1
Def
9ELAC2
Def
9FLCN
Def
9FOXN1
Def
9GP1BA
Def
9GUCY2D
Def
9KDM6B
Def
9LIG3
Def
9MPDU1
Def
9MYH10
Def
9MYH2
Def
9MYO15A
Def
9NEK8
Def
9PEX12
Def
9PFN1
Def
9PHF12
Def
9PIGL
Def
9PIGS
Def
9POLR2A
Def
9PRPF8
Def
9SCO1
Def
9TTC19
Def
9VEZF1
No

TBC1 domain family member 2B

9CDC6
Lim
9COA3
Lim
9DNAJC7
Lim
9PIGW
Lim
9IL6R
Lim

interleukin 6 receptor

serpin family A member 1

HGF activator

serpin family A member 5

R-spondin 3

mitogen-activated protein kinase kinase kinase kinase 5

CD36 molecule (CD36 blood group)

8FLII
Mod
8GAS2L2
Mod
8NSRP1
Mod
8SLFN14
Mod
8WRAP53
Mod

solute carrier family 12 member 2

alcohol dehydrogenase 1B (class I), beta polypeptide

SH2B adaptor protein 3

docking protein 2

sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

CD33 molecule

cadherin EGF LAG seven-pass G-type receptor 2

transmembrane protein 176B

signal recognition particle 14

transmembrane protein 176A

sortilin 1

Fc gamma receptor IIIb

sorting nexin 8

SH3 domain binding protein 1

BEN domain containing 3

interleukin 1 receptor antagonist

DnaJ heat shock protein family (Hsp40) member C13

upstream binding protein 1

Possible

440 genes — click to expand

Fc gamma receptor IIa

phosphoprotein membrane anchor with glycosphingolipid microdomains 1

mannose receptor C-type 1

7ATPAF2
Lim
7GRAP
Lim
7MIEF2
Lim
7RPA1
Lim
7TAF15
Lim
7TIMM22
Lim
7TMEM98
Lim
6PIK3R5
Dis
6RANGRF
Ref
6SLC6A4
Dis
6TEKT1
Dis

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.