EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    4.2.1.134 | Arrhythmogenic Right Ventricular Dysplasia |
20724468 |
Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients. |
unassigned |
0 |
| 4.2.1.134 | Arrhythmogenic Right Ventricular Dysplasia |
22106411 |
Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway. |
causal interaction
unassigned |
3
0 |
| 4.2.1.134 | Atherosclerosis |
29031776 |
The HACD4 haplotype as a risk factor for atherosclerosis in males. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
3
4
1
0 |
| 4.2.1.134 | Carcinogenesis |
31270856 |
Identification of differentially expressed genes and functional annotations associated with metastases of the uveal melanoma. |
diagnostic usage
unassigned |
3
0 |
| 4.2.1.134 | Colonic Neoplasms |
28803425 |
Frameshift Mutations in Repeat Sequences of ANK3, HACD4, TCP10L, TP53BP1, MFN1, LCMT2, RNMT, TRMT6, METTL8 and METTL16 Genes in Colon Cancers. |
therapeutic application
unassigned |
1
0 |
| 4.2.1.134 | Dehydration |
23933735 |
Congenital myopathy is caused by mutation of HACD1. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 4.2.1.134 | Muscle Hypotonia |
22106411 |
Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway. |
causal interaction
unassigned |
3
0 |
| 4.2.1.134 | Muscle Weakness |
26160855 |
HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth. |
causal interaction
unassigned |
3
0 |
| 4.2.1.134 | Muscle Weakness |
33354762 |
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 4.2.1.134 | Muscular Diseases |
15829503 |
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. |
causal interaction
unassigned |
4
0 |
