Genes associated with “C2ORF88”

Diagnostic yield calculator →
236 genes foundOpen Targets: level of 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial in blood serum
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
hover for details

Strong Candidates

1 gene
1
HIBCH →

3-hydroxyisobutyryl-CoA hydrolase

20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
14
OT Score
0.43

Consider

205 genes
17COL3A1
DefSF
17COL5A2
Def
17GLS
Def
17HECW2
Def
15NCKAP1
Def
15SATB2
Def
14BMPR2
Def
14CALCRL
13INPP1

inositol polyphosphate-1-phosphatase

13AGPS
Def
13CERKL
Def
13MARS2
Def
13PJVK
Def
13SLC40A1
Def
13STAT1
Def
13TTN
DefSF
13MFSD6

major facilitator superfamily domain containing 6

12ALS2
Def
12CASP8
Def
12CHRNA1
Def
12CTLA4
Def
12FASTKD2
Def
12ICOS
Def
12MTX2
Def
12NDUFB3
Def
12NDUFS1
Def
12TMEM237
Def
12WIPF1
Def
12NEUROD1
Mod
11CD28
Mod
11CHN1
Mod
11HOXD13
11BBS5
Def
11CPS1
Def
11DCAF17
Def
11DNAH7
Lim
11GAD1
Def
11NFE2L2
Lim
11UNC80
Def
10ATP5MC3
Lim
10CASP10
Lim
10ANKAR
10ANKRD44
10AOX1
10ASNSD1
10BZW1
10C2ORF66
10C2ORF69
10C2ORF88
10CAVIN2
10CCDC141
10CCDC150
10CDCA7
Mod
10CLK1
10COQ10B
10CWC22
10DIRC1
10DNAJC10
10DUSP19
10FAM171B
10FKBP7
10FSIP2
10FTCDNL1
10GTF3C3
10GULP1
10HNRNPA3
10HSPD1
10HSPE1
10HYCC2
10IFT70A
10IFT70B
10ITGA4
10ITGAV
10ITPRID2
10KCTD18
10KLHL41
Mod
10MAIP1
10MAP3K20
Str
10MOB4
10MYO1B
10NAB1
10NABP1
10NEMP2
10NIF3L1
10NUP35
10ORC2
10ORMDL1
10OSBPL6
10OSGEPL1
10PCGEM1
10PDE11A
10PDE1A
10PGAP1
10PLCL1
10PLEKHA3
10PMS1
Ref
10PPIL3
10PPP1R1C
10PRKRA
10RBM45
10RFTN2
10SESTD1
10SF3B1
10SGO2
10SLC25A12
Mod
10SLC39A10
10SPATS2L
10STAT4
10STK17B
10TMEFF2
10TYW5
10UBE2E3
10WDR75
10ZC3H15
10ZNF385B
10ZNF804A
10ZSWIM2
9ABI2
9ADAM23
9ASDURF
9ATF2
9C2CD6
9C2ORF80
9CCNYL1
9CDK15
9CFLAR
9CMKLR2
9CREB1
9CRYGA
9CRYGB
9CRYGC
9CRYGD
9CYP20A1
9EEF1B2
9EVX2
9FAM117B
9FLACC1
9FZD5
9FZD7
9GPR155
9HOXD1
9HOXD10
9HOXD11
9HOXD12
9HOXD3
9HOXD4
9HOXD8
9HOXD9
9ICA1L
9IDH1
9INO80D
9KLF7
9MDH1B
9METTL21A
9MPP4
9NBEAL1
9NEMP2-DT
9NOP58
9NRP2
9OLA1
9PARD3B
9PIKFYVE
9PLEKHM3
9PTH2R
9RAPH1
9SCRN3
9SP3
9SP9
9STRADB
9SUMO1
9TRAK2
9WDR12
9ZDBF2
9MYL1
Lim
9SCN1A
Def
9SCN2A
Def
8ABCB11
8ACADL
Dis
8CFAP210
8CIRSR
8CYBRD1
8DHRS9
8DLX1
8DLX2
8DYNC1I2
8ERICH2
8FASTKD1
8GORASP2
8HAT1
8ITGA6
8KANSL1L
8KLHL23
8LANCL1
8LRP2
No
8MAP2
8METAP1D
8METTL5
8METTL8
8MYO3B
8PDK1
8PHOSPHO2
8RAPGEF4
8SP5
8TLK1
8UBR3

Possible

30 genes — click to expand
7ERBB4
Lim
7GALNT3
Def
7SCN3A
Def
7TTC21B
Def
6ANKRD44-IT1
6B3GALT1
6CERS6
6CHROMR
6EPCART
6G6PC2
6HSPE1-MOB4
6NOSTRIN
6SCHLAP1
6SCN7A
6SNORA105B
6SPC25
6STK39
6UBE2E3-DT
6XIRP2
6IKZF2
Mod
4CIR1
4COBLL1
4CSRNP3
4GRB14
4KCNH7
4SCN9A
Ref
4SLC38A11
4SPAG16
4VWC2L
3AKAP19

A-kinase anchoring protein 19

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