Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	501
Gene name	Aldehyde dehydrogenase 7 family member A1
Gene symbol	ALDH7A1
Synonyms (NCBI Gene)	ATQ1EPDEPEO4PDE
Chromosome	5
Chromosome location	5q23.2
Summary	The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particula

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61757684	T>A,C	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121912707	C>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912708	G>A,C	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs121912709	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912710	A>C,G	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121912711	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs140102105	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs140845195	C>A,T	Pathogenic	Splice acceptor variant
rs144701796	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs147940248	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs186558364	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs199497486	C>T	Pathogenic	Splice donor variant
rs200394848	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant
rs201948406	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant
rs368427726	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs368820286	C>T	Pathogenic	Intron variant
rs369859575	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs372660425	T>C	Pathogenic	Missense variant, coding sequence variant
rs376917645	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387906574	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs543181020	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs555896752	A>C	Pathogenic	Missense variant, coding sequence variant
rs556400964	C>G	Pathogenic	Missense variant, coding sequence variant
rs563928852	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant
rs587780850	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs747597620	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs747643987	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750693623	C>-	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs754449549	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs758414053	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764417585	G>T	Pathogenic	Coding sequence variant, missense variant
rs764588746	C>T	Likely-pathogenic	Splice donor variant
rs765119568	TCAATCAGTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs767805540	->TGGT	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs773814169	T>A	Likely-pathogenic	Intron variant
rs777829351	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs778003597	->G	Pathogenic	Coding sequence variant, frameshift variant
rs779494572	C>G	Pathogenic	Splice acceptor variant
rs779652673	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs780233639	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794727058	C>T	Pathogenic	Intron variant, splice donor variant
rs796052260	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs796052267	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052270	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs796052271	C>A	Pathogenic	Coding sequence variant, missense variant
rs864622557	C>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs864622558	C>T	Pathogenic	Coding sequence variant, missense variant
rs935431600	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs994001880	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1015686016	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060499755	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1060502949	C>G	Likely-pathogenic	Splice acceptor variant
rs1064793830	C>A	Pathogenic	Splice donor variant
rs1064794053	C>G	Pathogenic	Splice acceptor variant
rs1064794240	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794241	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794242	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064794774	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691580	C>A,T	Likely-pathogenic	Intron variant
rs1131691976	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1217642695	C>A	Likely-pathogenic	Intron variant, splice donor variant
rs1270423610	G>A	Pathogenic	Coding sequence variant, stop gained
rs1389460034	A>G	Pathogenic	Splice donor variant
rs1444879414	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554099008	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554100454	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554101995	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1561672504	A>T	Pathogenic	Splice donor variant
rs1581357507	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1581368665	T>G	Likely-pathogenic	Splice acceptor variant

140

Show/Hide all (140)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052595	hsa-let-7a-5p	CLASH	23622248
MIRT051932	hsa-let-7b-5p	CLASH	23622248
MIRT051376	hsa-let-7f-5p	CLASH	23622248
MIRT041487	hsa-miR-193b-3p	CLASH	23622248
MIRT662161	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT662160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT662159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT662158	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT662157	hsa-miR-1976	HITS-CLIP	23824327
MIRT662156	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT662155	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT662154	hsa-miR-4279	HITS-CLIP	23824327
MIRT662153	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT662161	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT662160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT662159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT662158	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT662157	hsa-miR-1976	HITS-CLIP	23824327
MIRT662156	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT662155	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT662154	hsa-miR-4279	HITS-CLIP	23824327
MIRT662153	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT777674	hsa-miR-1207-5p	CLIP-seq
MIRT777675	hsa-miR-1208	CLIP-seq
MIRT777676	hsa-miR-1277	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777678	hsa-miR-214	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777681	hsa-miR-3064-3p	CLIP-seq
MIRT777682	hsa-miR-3123	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT777684	hsa-miR-3150a-3p	CLIP-seq
MIRT777685	hsa-miR-3175	CLIP-seq
MIRT777686	hsa-miR-3190	CLIP-seq
MIRT777687	hsa-miR-3202	CLIP-seq
MIRT777688	hsa-miR-338-3p	CLIP-seq
MIRT777689	hsa-miR-342-5p	CLIP-seq
MIRT777690	hsa-miR-3619-5p	CLIP-seq
MIRT777691	hsa-miR-3663-5p	CLIP-seq
MIRT777692	hsa-miR-371-5p	CLIP-seq
MIRT777693	hsa-miR-371b-5p	CLIP-seq
MIRT777694	hsa-miR-3919	CLIP-seq
MIRT777695	hsa-miR-4270	CLIP-seq
MIRT777696	hsa-miR-4272	CLIP-seq
MIRT777697	hsa-miR-4433	CLIP-seq
MIRT777698	hsa-miR-4441	CLIP-seq
MIRT777699	hsa-miR-4450	CLIP-seq
MIRT777700	hsa-miR-4525	CLIP-seq
MIRT777701	hsa-miR-4530	CLIP-seq
MIRT777702	hsa-miR-4533	CLIP-seq
MIRT777703	hsa-miR-4664-5p	CLIP-seq
MIRT777704	hsa-miR-4667-5p	CLIP-seq
MIRT777705	hsa-miR-4668-5p	CLIP-seq
MIRT777706	hsa-miR-4691-5p	CLIP-seq
MIRT777707	hsa-miR-4700-5p	CLIP-seq
MIRT777708	hsa-miR-4716-3p	CLIP-seq
MIRT777709	hsa-miR-4722-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777711	hsa-miR-4736	CLIP-seq
MIRT777712	hsa-miR-4755-3p	CLIP-seq
MIRT777713	hsa-miR-4757-5p	CLIP-seq
MIRT777714	hsa-miR-4760-3p	CLIP-seq
MIRT777715	hsa-miR-4763-3p	CLIP-seq
MIRT777716	hsa-miR-483-5p	CLIP-seq
MIRT777717	hsa-miR-490-3p	CLIP-seq
MIRT777718	hsa-miR-548u	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT777720	hsa-miR-649	CLIP-seq
MIRT777721	hsa-miR-759	CLIP-seq
MIRT777722	hsa-miR-761	CLIP-seq
MIRT777723	hsa-miR-766	CLIP-seq
MIRT777724	hsa-miR-939	CLIP-seq
MIRT777725	hsa-miR-944	CLIP-seq
MIRT777726	hsa-miR-1283	CLIP-seq
MIRT777727	hsa-miR-136	CLIP-seq
MIRT777728	hsa-miR-1470	CLIP-seq
MIRT777729	hsa-miR-1827	CLIP-seq
MIRT777730	hsa-miR-335	CLIP-seq
MIRT777731	hsa-miR-3618	CLIP-seq
MIRT777732	hsa-miR-3929	CLIP-seq
MIRT777733	hsa-miR-4297	CLIP-seq
MIRT777734	hsa-miR-4419b	CLIP-seq
MIRT777735	hsa-miR-4459	CLIP-seq
MIRT777736	hsa-miR-4478	CLIP-seq
MIRT777737	hsa-miR-4649-3p	CLIP-seq
MIRT777738	hsa-miR-4667-3p	CLIP-seq
MIRT777709	hsa-miR-4722-5p	CLIP-seq
MIRT777739	hsa-miR-485-5p	CLIP-seq
MIRT777740	hsa-miR-539	CLIP-seq
MIRT777741	hsa-miR-548a-3p	CLIP-seq
MIRT777742	hsa-miR-548e	CLIP-seq
MIRT777743	hsa-miR-548f	CLIP-seq
MIRT777744	hsa-miR-580	CLIP-seq
MIRT777745	hsa-miR-642a	CLIP-seq
MIRT777746	hsa-miR-940	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT1929608	hsa-miR-3612	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT1929610	hsa-miR-650	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT2170436	hsa-miR-5095	CLIP-seq
MIRT2170437	hsa-miR-552	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT2384069	hsa-miR-3134	CLIP-seq
MIRT2384070	hsa-miR-3622b-5p	CLIP-seq
MIRT777695	hsa-miR-4270	CLIP-seq
MIRT777698	hsa-miR-4441	CLIP-seq
MIRT2384071	hsa-miR-4534	CLIP-seq
MIRT777705	hsa-miR-4668-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT2384072	hsa-miR-4793-5p	CLIP-seq
MIRT2384073	hsa-miR-501-3p	CLIP-seq
MIRT2384074	hsa-miR-502-3p	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT2473076	hsa-miR-205	CLIP-seq
MIRT777730	hsa-miR-335	CLIP-seq
MIRT2473077	hsa-miR-3614-3p	CLIP-seq
MIRT2473078	hsa-miR-451b	CLIP-seq
MIRT2473079	hsa-miR-4679	CLIP-seq
MIRT2473080	hsa-miR-642b	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IDA	20207735, 21338592
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IEA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	ISS
GO:0004043	Function	L-aminoadipate-semialdehyde dehydrogenase activity	IEA
GO:0005515	Function	Protein binding	IPI	21988832, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	20207735
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	20207735
GO:0005829	Component	Cytosol	IEA
GO:0006081	Process	Aldehyde metabolic process	ISS
GO:0007605	Process	Sensory perception of sound	TAS	9417906
GO:0008802	Function	Betaine-aldehyde dehydrogenase (NAD+) activity	IDA	20207735
GO:0008802	Function	Betaine-aldehyde dehydrogenase (NAD+) activity	IEA
GO:0008802	Function	Betaine-aldehyde dehydrogenase (NAD+) activity	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0019285	Process	Glycine betaine biosynthetic process from choline	IEA
GO:0042426	Process	Choline catabolic process	TAS
GO:0042802	Function	Identical protein binding	IDA	20207735
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
107323	877	ENSG00000164904

P49419

Protein name

Alpha-aminoadipic semialdehyde dehydrogenase (Alpha-AASA dehydrogenase) (EC 1.2.1.31) (Aldehyde dehydrogenase family 7 member A1) (EC 1.2.1.3) (Antiquitin-1) (Betaine aldehyde dehydrogenase) (EC 1.2.1.8) (Delta1-piperideine-6-carboxylate dehydrogenase) (P

Protein function

Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived

PDB

2J6L , 4X0T , 4X0U , 4ZUK , 4ZUL , 4ZVW , 4ZVX , 4ZVY , 6O4B , 6O4C , 6O4D , 6O4E , 6O4F , 6O4G , 6O4H , 6O4I , 6O4K , 6O4L , 6U2X , 6V0Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00171	Aldedh	59 → 522	Aldehyde dehydrogenase family	Family

Tissue specificity

TISSUE SPECIFICITY: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue. {ECO:0000269|P

Sequence

MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWG
GRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDA
LREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIE
QWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGN
NAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVG
NPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHD
ASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGI
VNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

Sequence length

539

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Ascorbate and aldarate metabolism Fatty acid degradation Glycine, serine and threonine metabolism Valine, leucine and isoleucine degradation Lysine degradation Arginine and proline metabolism Histidine metabolism Tryptophan metabolism beta-Alanine metabolism Glycerolipid metabolism Pyruvate metabolism One carbon pool by folate Metabolic pathways Alcoholic liver disease		Choline catabolism Lysine catabolism

1057

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs1060499755	RCV000454207
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs387906574	RCV001814003
ALDH7A1-related disorder	Pathogenic; Likely pathogenic	rs796052270, rs201948406, rs140845195, rs779652673	RCV004755799 RCV004755743 RCV003902460 RCV004755933
Cervical cancer	Pathogenic	rs779494572	RCV005887576
Clear cell carcinoma of kidney	Pathogenic	rs794727058	RCV005889739
Developmental and epileptic encephalopathy, 13	Pathogenic	rs779652673	RCV001822859
Epilepsy	Likely pathogenic; Pathogenic	rs754312564, rs368820286	RCV004798944 RCV004798824
Melanoma	Likely pathogenic; Pathogenic	rs764588746	RCV005901167
Neonatal seizure	Likely pathogenic; Pathogenic	rs199497486	RCV004819195
Ovarian serous cystadenocarcinoma	Pathogenic	rs794727058	RCV005889740
Pyridoxine-dependent epilepsy	Pathogenic; Likely pathogenic	rs1749943369, rs1347421419, rs1471249688, rs1204010423, rs201948406, rs2112794702, rs757377110, rs2112820022, rs148052962, rs1749930972, rs760636660, rs772766995, rs1373022366, rs1258470290, rs768233031 View all (119 more)	RCV001336286 RCV001379230 RCV001387759 RCV001386613 RCV001387187 RCV001388722 RCV001385844 RCV001389875 RCV002032769 RCV003516978 RCV003120690 RCV001837054 RCV001837055 RCV002266037 RCV002012989 RCV001953817 RCV002007248 RCV002000411 RCV001953415 RCV002046836 RCV001867057 RCV002051594 RCV002249245 RCV003631233 RCV002273300 RCV002281617 RCV002290133 RCV003328103 RCV003037113 RCV003037114 RCV003037115 RCV003037117 RCV003037118 RCV003517138 RCV002643900 RCV002635323 RCV000545498 RCV003225038 RCV001227681 RCV003517144 RCV000796632 RCV003338453 RCV003765162 RCV002785461 RCV002847033 RCV002828638 RCV002833924 RCV002862450 RCV002942217 RCV003023220 RCV003024210 RCV000205037 RCV000206803 RCV003146843 RCV005099417 RCV003333246 RCV003225671 RCV001234914 RCV001203133 RCV003335823 RCV003448858 RCV003517534 RCV003517567 RCV003518036 RCV003518260 RCV003518183 RCV003518587 RCV003518748 RCV003518750 RCV003516900 RCV003516972 RCV003517030 RCV003517777 RCV003517772 RCV003517806 RCV003631592 RCV003631777 RCV003631830 RCV003631717 RCV003631940 RCV003631999 RCV003632107 RCV003632165 RCV003632282 RCV003632380 RCV003632435 RCV003632627 RCV003632785 RCV003632774 RCV003632771 RCV003817604 RCV003827643 RCV003842899 RCV003831347 RCV003862714 RCV003988736 RCV003989934 RCV000019610 RCV000019611 RCV000019612 RCV000019613 RCV000019614 RCV000019615 RCV000019616 RCV000019617 RCV000019618 RCV000558837 RCV004767262 RCV000468096 RCV000471461 RCV001387758 RCV001216446 RCV001066514 RCV001865441 RCV003517199 RCV000554558 RCV000791513 RCV000546567 RCV000553088 RCV000539688 RCV000534592 RCV000690451 RCV003159159 RCV000778746 RCV000778747 RCV000802615 RCV000807892 RCV000824644 RCV000801149 RCV000816313 RCV001045127 RCV001039106 RCV001070994 RCV001052728 RCV001052854 RCV001061586 RCV001862675 RCV003631176 RCV001214504 RCV001218708 RCV001231545
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	Likely pathogenic; Pathogenic	rs121912707, rs140845195	RCV002227440 RCV003993949
See cases	Pathogenic	rs121912708, rs779494572, rs1270423610	RCV002251913 RCV004584333 RCV002252160
Seizure	Likely pathogenic; Pathogenic	rs121912707, rs121912708, rs201948406, rs140845195, rs779652673	RCV000718443 RCV000415171 RCV005624288 RCV000414868 RCV005624405
Thyroid cancer, nonmedullary, 1	Pathogenic	rs780304828	RCV005935042
Ventriculomegaly	Pathogenic	rs121912708, rs140845195	RCV000415171 RCV000414868

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs79544459	RCV005892454
Adrenocortical carcinoma, hereditary	Benign	rs12514417	RCV005887933
Cholangiocarcinoma	Benign	rs12514417, rs66822510	RCV005887938 RCV005905476
Colorectal cancer	Benign	rs12514417	RCV005887935
Developmental and epileptic encephalopathy, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs1045606047, rs2112752319	RCV002283583 RCV002284143
Familial cancer of breast	Conflicting classifications of pathogenicity	rs759910341	RCV005896788
Gastric cancer	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs761501683, rs79544459, rs759910341	RCV005911060 RCV005892459 RCV005896789
Germ cell tumor of testis	Benign	rs79544459	RCV005892462
Hepatocellular carcinoma	Benign	rs74323138	RCV005923210
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	rs147940248, rs1749787678	RCV001252144 RCV001252143
Intractable seizure	Conflicting classifications of pathogenicity	rs58528748	RCV000678776
Leukoencephalopathy	Uncertain significance	rs140947675	RCV000678778
Lung cancer	Benign	rs66822510	RCV005905477
Lymphoma	Likely benign	rs1057521816	RCV005896708
Malignant tumor of esophagus	Likely benign; Benign	rs74506530, rs79544459, rs744721, rs744722, rs149228266, rs66822510	RCV005919204 RCV005892455 RCV005897906 RCV005897905 RCV005899492 RCV005905473
Ovarian cancer	Benign	rs79544459	RCV005892457
Sarcoma	Benign	rs79544459	RCV005892458
Thymoma	Benign; Conflicting classifications of pathogenicity	rs12514417, rs79544459, rs759910341, rs66822510	RCV005887937 RCV005892461 RCV005896790 RCV005905475
Uterine carcinosarcoma	Benign	rs12514417, rs744721, rs66822510	RCV005887936 RCV005897907 RCV005905474
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs7737529, rs74323138	RCV005919293 RCV005923211
Uveal melanoma	Benign	rs12514417	RCV005887934

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	35929507
Alzheimer Disease	Associate	7772058
Atherosclerosis	Associate	28476896
Brain Diseases	Associate	31990480
Brain Diseases Metabolic Inborn	Associate	25818041
CADASIL	Associate	7772058
Carcinogenesis	Associate	25213698
Carcinoma Non Small Cell Lung	Associate	23647301
Carcinoma Squamous Cell	Associate	33991070, 34044809, 37856813
Cerebrovascular Disorders	Associate	28476896, 7772058
Colonic Neoplasms	Associate	26299804
Colorectal Neoplasms	Associate	28767654
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	38604394
Death	Stimulate	29373299
Depression Postpartum	Associate	23350806
Depressive Disorder	Associate	21041613
Epilepsy	Associate	20554659, 20814824, 24942048, 25274592, 25758715, 25818041, 26224730, 26260980, 29045138, 31302938, 31652343, 31990480, 32980745, 36198807, 37540965, 38604394, 39501195 View all (2 more)
Epilepsy Benign Neonatal	Associate	31990480
Esophageal Squamous Cell Carcinoma	Associate	25213698
Genetic Diseases Inborn	Associate	25758715, 7772058
Glioblastoma	Associate	28767654
Hyperglycinemia Nonketotic	Associate	31990480
Hyperlysinemias	Associate	18717709, 39501195
Hypertension Pulmonary	Associate	16980375
Immunologic Deficiency Syndromes	Associate	20554659
Inflammation	Associate	31664853
Intellectual Disability	Associate	35715422
Kidney Neoplasms	Inhibit	30486822
Liver Failure	Associate	29373299
Lung Neoplasms	Stimulate	23647301
Mental Disorders	Associate	23350806
Metabolism Inborn Errors	Associate	34756024
Mouth Neoplasms	Associate	35613852
Muscle Hypertonia	Associate	23350806
Neoplasm Metastasis	Associate	21647815, 30486822, 35613852
Neoplasm Metastasis	Inhibit	35613852
Neoplasms	Inhibit	23647301, 30486822
Neoplasms	Associate	25213698, 27927168, 31206508, 35613852
Osteoporosis	Associate	20072603
Osteoporotic Fractures	Associate	20072603
Ovarian Neoplasms	Associate	22852552
Pituitary Neoplasms	Associate	7772058
Prostatic Neoplasms	Associate	21647815
Psychomotor Disorders	Associate	23350806
Pyridoxine dependent epilepsy	Associate	18717709, 19128417, 20887371, 23350806, 24942048, 28779752, 31302938, 31652343, 34756024, 36555701, 37540965, 37580162, 38604394
Seizures	Associate	18717709, 19128417, 20814824, 23350806, 35715422, 38604394
Spasm	Associate	37583270
Spasms Infantile	Associate	35715422, 37583270

ALDH7A1 (aldehyde dehydrogenase 7 family member A1)