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ALDH18A1 and epilepsy are reported together in 1 article.

Gene

ALDH18A1

2articles

2mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

2,084articles

2,084mentions

12co-reported genes shown

Most co-reported genes (articles)

Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.

1 records shown · first 60

PMID 37119015 | DOI 10.1002/jgm.3522 · The journal of gene medicine · 2023 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	ALDH18A1	“Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“Meanwhile the affected individuals in the DWF-41 family (V-2 and V-3) had progeroid skin, short stature, dysmorphology, low muscle tone, epilepsy, lordosis, scoliosis, delayed puberty and internal genitalia.”	0.98	phenotype_alias_lexicon_v2
gene	ATP6V0A2	“Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.”	0.98	hgnc_dict_v1
variant	c.1977_1980del	“WES in the index patient (ED-01: IV-4) identified a novel homozygous deletion (NM_012463.3: c.1977_1980del; p.[Val660LeufsTer23]) in exon 16 of the ATP6V0A2 while in DWF-41 a novel homozygous missense variant (NM_001323413.1:c.1867G>A; p.[Asp623Asn]) in exon 15 of the ALDH18A1 was identified.”	0.95	hgvs_regex_v1