Gene table of ALDH18A1 : aldehyde dehydrogenase 18 family member A1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ALDH18A1	OMIM link	Number of associated genes	genes
219150	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ALDH18A1
616603	CUTIS LAXA, AUTOSOMAL DOMINANT 3	ClinVar, OMIM	link to OMIM	1	ALDH18A1
PS303350	SPASTIC PARAPLEGIA	ClinVar, OMIM	link to OMIM	47	KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Biosynthesis of amino acids	hsa01230	6.58
Metabolic pathways	hsa01100	2.49
Arginine and proline metabolism	hsa00330	6.84

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Metabolism	R-HSA-1430728	2.34
Amino acid synthesis and interconversion (transamination)	R-HSA-70614	8.89

Associated GO terms for Molecular function

GO term	GO ID	GO IC
	GO:0019202	9.74
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
ATP binding	GO:0005524	2.43
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
oxidoreductase activity	GO:0016491	3.12
	GO:0004349	9.74
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	GO:0016620	6.13
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
nucleoside binding	GO:0001882	2.21
identical protein binding	GO:0042802	2.63
protein binding	GO:0005515	0.46
poly(A) RNA binding	GO:0044822	2.69
kinase activity	GO:0016301	2.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
oxidoreductase activity, acting on the aldehyde or oxo group of donors	GO:0016903	5.87
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
	GO:0004350	9.74
phosphotransferase activity, carboxyl group as acceptor	GO:0016774	8.35
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
	GO:0017084	9.74
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19