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	5832
Gene name	Aldehyde dehydrogenase 18 family member A1
Gene symbol	ALDH18A1
Synonyms (NCBI Gene)	ADCL3ARCL3AGSASP5CSPYCSSPG9SPG9ASPG9B
Chromosome	10
Chromosome location	10q24.1
Summary	This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduct

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434582	C>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs121434583	G>A	Pathogenic	Missense variant, coding sequence variant
rs150526956	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs374052426	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs537043237	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs556267618	C>T	Likely-pathogenic	Splice donor variant
rs587777858	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs748925635	C>T	Pathogenic	Coding sequence variant, missense variant
rs752669339	C>G	Pathogenic	Coding sequence variant, missense variant
rs758543218	G>A	Pathogenic	Coding sequence variant, stop gained
rs762271422	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs762742204	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs766264810	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs768323248	C>T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs774047299	T>C,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs786205614	T>C	Likely-pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs863223315	C>T	Pathogenic	Splice donor variant
rs863224945	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225044	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs863225045	C>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs864321669	C>G	Pathogenic	Coding sequence variant, missense variant
rs864321670	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs869320690	A>G	Pathogenic	Coding sequence variant, missense variant
rs1057518541	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1194593234	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1462559161	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs1555262375	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555264243	C>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1566039159	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant

168

Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022930	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT031825	hsa-miR-16-5p	Proteomics	18668040
MIRT050486	hsa-miR-20a-5p	CLASH	23622248
MIRT037662	hsa-miR-744-5p	CLASH	23622248
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT645821	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT645821	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625875	hsa-miR-4282	HITS-CLIP	23824327
MIRT625874	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT625873	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT625872	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT625871	hsa-miR-4263	HITS-CLIP	23824327
MIRT625870	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT776918	hsa-miR-1200	CLIP-seq
MIRT776919	hsa-miR-1238	CLIP-seq
MIRT776920	hsa-miR-1269	CLIP-seq
MIRT776921	hsa-miR-1269b	CLIP-seq
MIRT776922	hsa-miR-182	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT776924	hsa-miR-2114	CLIP-seq
MIRT776925	hsa-miR-3162-3p	CLIP-seq
MIRT776926	hsa-miR-3192	CLIP-seq
MIRT776927	hsa-miR-330-3p	CLIP-seq
MIRT776928	hsa-miR-335	CLIP-seq
MIRT776929	hsa-miR-3617	CLIP-seq
MIRT776930	hsa-miR-4324	CLIP-seq
MIRT776931	hsa-miR-4470	CLIP-seq
MIRT776932	hsa-miR-4529-3p	CLIP-seq
MIRT776933	hsa-miR-544b	CLIP-seq
MIRT776934	hsa-miR-629	CLIP-seq
MIRT776935	hsa-miR-641	CLIP-seq
MIRT776936	hsa-miR-642b	CLIP-seq
MIRT776937	hsa-miR-873	CLIP-seq
MIRT776920	hsa-miR-1269	CLIP-seq
MIRT776921	hsa-miR-1269b	CLIP-seq
MIRT776922	hsa-miR-182	CLIP-seq
MIRT776924	hsa-miR-2114	CLIP-seq
MIRT1929430	hsa-miR-4300	CLIP-seq
MIRT776931	hsa-miR-4470	CLIP-seq
MIRT1929431	hsa-miR-4494	CLIP-seq
MIRT776932	hsa-miR-4529-3p	CLIP-seq
MIRT1929432	hsa-miR-550b	CLIP-seq
MIRT1929433	hsa-miR-920	CLIP-seq
MIRT2170089	hsa-miR-3935	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2170091	hsa-miR-4691-5p	CLIP-seq
MIRT2170092	hsa-miR-491-5p	CLIP-seq
MIRT2170093	hsa-miR-766	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472871	hsa-miR-1	CLIP-seq
MIRT2472872	hsa-miR-1184	CLIP-seq
MIRT2472873	hsa-miR-1286	CLIP-seq
MIRT2472874	hsa-miR-1299	CLIP-seq
MIRT2472875	hsa-miR-1301	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472876	hsa-miR-206	CLIP-seq
MIRT2472877	hsa-miR-2276	CLIP-seq
MIRT2472878	hsa-miR-3199	CLIP-seq
MIRT2472879	hsa-miR-325	CLIP-seq
MIRT2472880	hsa-miR-3673	CLIP-seq
MIRT2472881	hsa-miR-3690	CLIP-seq
MIRT2472882	hsa-miR-370	CLIP-seq
MIRT2472883	hsa-miR-3940-5p	CLIP-seq
MIRT2472884	hsa-miR-3974	CLIP-seq
MIRT2472885	hsa-miR-4254	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2472886	hsa-miR-4453	CLIP-seq
MIRT2472887	hsa-miR-4477a	CLIP-seq
MIRT2472888	hsa-miR-4480	CLIP-seq
MIRT2472889	hsa-miR-4507	CLIP-seq
MIRT2472890	hsa-miR-4538	CLIP-seq
MIRT2472891	hsa-miR-4652-5p	CLIP-seq
MIRT2472892	hsa-miR-4660	CLIP-seq
MIRT2472893	hsa-miR-4711-5p	CLIP-seq
MIRT2472894	hsa-miR-4716-3p	CLIP-seq
MIRT2472895	hsa-miR-4719	CLIP-seq
MIRT2472896	hsa-miR-4722-5p	CLIP-seq
MIRT2472897	hsa-miR-4738-3p	CLIP-seq
MIRT2472898	hsa-miR-4775	CLIP-seq
MIRT2472899	hsa-miR-5047	CLIP-seq
MIRT2472900	hsa-miR-613	CLIP-seq
MIRT2472901	hsa-miR-628-3p	CLIP-seq
MIRT2472902	hsa-miR-760	CLIP-seq
MIRT2472903	hsa-miR-875-3p	CLIP-seq
MIRT2472871	hsa-miR-1	CLIP-seq
MIRT2472872	hsa-miR-1184	CLIP-seq
MIRT2472873	hsa-miR-1286	CLIP-seq
MIRT2472874	hsa-miR-1299	CLIP-seq
MIRT2472875	hsa-miR-1301	CLIP-seq
MIRT776923	hsa-miR-1976	CLIP-seq
MIRT2472876	hsa-miR-206	CLIP-seq
MIRT2674895	hsa-miR-224	CLIP-seq
MIRT2472877	hsa-miR-2276	CLIP-seq
MIRT2472878	hsa-miR-3199	CLIP-seq
MIRT2472879	hsa-miR-325	CLIP-seq
MIRT2472880	hsa-miR-3673	CLIP-seq
MIRT2472881	hsa-miR-3690	CLIP-seq
MIRT2472882	hsa-miR-370	CLIP-seq
MIRT2472883	hsa-miR-3940-5p	CLIP-seq
MIRT2472885	hsa-miR-4254	CLIP-seq
MIRT2170090	hsa-miR-4267	CLIP-seq
MIRT2472886	hsa-miR-4453	CLIP-seq
MIRT2472887	hsa-miR-4477a	CLIP-seq
MIRT2472888	hsa-miR-4480	CLIP-seq
MIRT2472889	hsa-miR-4507	CLIP-seq
MIRT2472890	hsa-miR-4538	CLIP-seq
MIRT2472891	hsa-miR-4652-5p	CLIP-seq
MIRT2472892	hsa-miR-4660	CLIP-seq
MIRT2472893	hsa-miR-4711-5p	CLIP-seq
MIRT2472894	hsa-miR-4716-3p	CLIP-seq
MIRT2472895	hsa-miR-4719	CLIP-seq
MIRT2472896	hsa-miR-4722-5p	CLIP-seq
MIRT2472897	hsa-miR-4738-3p	CLIP-seq
MIRT2472898	hsa-miR-4775	CLIP-seq
MIRT2472899	hsa-miR-5047	CLIP-seq
MIRT2472900	hsa-miR-613	CLIP-seq
MIRT2472901	hsa-miR-628-3p	CLIP-seq
MIRT2472902	hsa-miR-760	CLIP-seq
MIRT2472903	hsa-miR-875-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003824	Function	Catalytic activity	IEA
GO:0004349	Function	Glutamate 5-kinase activity	IDA	11092761
GO:0004349	Function	Glutamate 5-kinase activity	IEA
GO:0004349	Function	Glutamate 5-kinase activity	IMP	26297558
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IBA
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IDA	11092761
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IEA
GO:0004350	Function	Glutamate-5-semialdehyde dehydrogenase activity	IMP	26297558
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	26297558, 26320891
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IDA	32770108
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006536	Process	Glutamate metabolic process	IMP	11092761
GO:0006592	Process	Ornithine biosynthetic process	IMP	11092761, 26297558
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0009266	Process	Response to temperature stimulus	IEA
GO:0016301	Function	Kinase activity	IEA
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:0016740	Function	Transferase activity	IEA
GO:0019240	Process	Citrulline biosynthetic process	IMP	11092761, 26297558
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042802	Function	Identical protein binding	IDA	26297558
GO:0055129	Process	L-proline biosynthetic process	IEA
GO:0055129	Process	L-proline biosynthetic process	IMP	11092761, 26297558
GO:0055129	Process	L-proline biosynthetic process	TAS	8761662

MIM	HGNC	e!Ensembl
138250	9722	ENSG00000059573

P54886

Protein name

Delta-1-pyrroline-5-carboxylate synthase (P5CS) (Aldehyde dehydrogenase family 18 member A1) [Includes: Glutamate 5-kinase (GK) (EC 2.7.2.11) (Gamma-glutamyl kinase); Gamma-glutamyl phosphate reductase (GPR) (EC 1.2.1.41) (Glutamate-5-semialdehyde dehydro

Protein function

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. {ECO:0000269|PubMed:10037775, ECO:0000269|PubMed:11092761, ECO:0000269|PubMed:26297558, ECO:0000269|

PDB

2H5G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00696	AA_kinase	71 → 329	Amino acid kinase family	Family
PF00171	Aldedh	350 → 662	Aldehyde dehydrogenase family	Family

Sequence

MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKS
FAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAV
AFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQY
SICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAVVPPAEPNSDLQGVNV
ISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTK
SRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAG
PTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAA
PLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIF
ESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTRE
EVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRL
VRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSE
VKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVF
WNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHVVSDFSEHGSL
KYLHENLPIPQRNTN

Sequence length

795

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids		Glutamate and glutamine metabolism

1709

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALDH18A1 deficiency	Pathogenic	rs864321670	RCV001095737
ALDH18A1-related de Barsy syndrome	Pathogenic; Likely pathogenic	rs587777858, rs2139621988, rs863225044, rs863225045, rs2526899878, rs2526671188, rs121434583, rs863223315, rs1555262375, rs1555264243, rs1194593234, rs556267618, rs748925635	RCV000144700 RCV002249243 RCV003883142 RCV000856780 RCV005255754 RCV003643499 RCV000017466 RCV000022579 RCV000545862 RCV000677649 RCV000791324 RCV000853365 RCV000995484
ALDH18A1-related disorder	Likely pathogenic; Pathogenic	rs751181507, rs863225045, rs556267618	RCV005250265 RCV004530202 RCV002279963
Autosomal dominant spastic paraplegia type 9	Pathogenic; Likely pathogenic	rs145289559, rs1202802893, rs2139593958, rs1292403369, rs1055913716, rs2526897392, rs2526696945, rs751181507, rs752669339, rs864321670, rs863224945, rs863225045, rs1325257479, rs2526727709, rs2526900150 View all (8 more)	RCV003786044 RCV003771757 RCV003773210 RCV003774999 RCV003777006 RCV003777008 RCV003777016 RCV003777028 RCV003765291 RCV003765292 RCV003765293 RCV003765295 RCV005227831 RCV003789880 RCV003792221 RCV003799951 RCV003797250 RCV003802067 RCV003810110 RCV003766465 RCV003766981 RCV003768530 RCV005225189
Autosomal recessive complex spastic paraplegia type 9B	Likely pathogenic; Pathogenic	rs2097844381, rs762154638, rs775201668, rs752669339, rs869320690, rs863225044, rs1325257479, rs2526899878	RCV001808061 RCV001808896 RCV005412285 RCV000200955 RCV000200952 RCV003883142 RCV005254726 RCV005255754
Cutis laxa, autosomal dominant 3	Pathogenic; Likely pathogenic	rs145289559, rs1202802893, rs2139593958, rs1292403369, rs1055913716, rs2526897392, rs2526696945, rs751181507, rs752669339, rs864321670, rs863224945, rs863225044, rs863225045, rs1325257479, rs2526899878 View all (10 more)	RCV003786044 RCV003771757 RCV003773210 RCV003774999 RCV003777006 RCV003777008 RCV003777016 RCV003777028 RCV001198042 RCV003765292 RCV003765293 RCV000201215 RCV000201213 RCV000201214 RCV005227831 RCV003142512 RCV003789880 RCV003792221 RCV003799951 RCV003797250 RCV003802067 RCV003810110 RCV003766465 RCV003766981 RCV003768530 RCV005225189
de Barsy syndrome	Pathogenic; Likely pathogenic	rs145289559, rs1202802893, rs2139593958, rs1292403369, rs1055913716, rs2526897392, rs2526696945, rs751181507, rs752669339, rs864321670, rs863224945, rs863225045, rs1325257479, rs2526727709, rs2526900150 View all (8 more)	RCV003786044 RCV003771757 RCV003773210 RCV003774999 RCV003777006 RCV003777008 RCV003777016 RCV003777028 RCV003765291 RCV003765292 RCV003765293 RCV003765295 RCV005227831 RCV003789880 RCV003792221 RCV003799951 RCV003797250 RCV003802067 RCV003810110 RCV003766465 RCV003766981 RCV003768530 RCV005225189
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs775201668	RCV001848313
Hereditary spastic paraplegia 9A	Likely pathogenic; Pathogenic	rs864321669, rs864321670, rs863224945, rs766264810, rs863225044, rs863225045, rs2526899878, rs2139621272	RCV000200956 RCV000200959 RCV000200954 RCV000200958 RCV003883142 RCV004798805 RCV005255754 RCV001391612
Intellectual disability	Likely pathogenic	rs770249022	RCV001260898
P5CS deficiency	Likely pathogenic	rs864321669	RCV003389243
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1055913716	RCV005928577

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of the nervous system	Conflicting classifications of pathogenicity	rs537043237	RCV001814103
Cervical cancer	Benign; Likely benign	rs149309642	RCV005891918
Clear cell carcinoma of kidney	Benign; Likely benign	rs149309642	RCV005891919
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs758219423	RCV005909299
Colorectal cancer	Benign; Likely benign	rs149309642	RCV005891920
Cutis Laxa, Recessive	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs886047516, rs566221549, rs375868871, rs775267777, rs773804418, rs200542959, rs185345785, rs886047515	RCV000360513 RCV000268461 RCV000264875 RCV000303602 RCV000345100 RCV000367582 RCV000317435 RCV000259851
Gastric cancer	Benign; Likely benign; Uncertain significance	rs149309642, rs774274057	RCV005891922 RCV005902059
Hearing impairment	Uncertain significance	rs142746793	RCV005626394
Hepatocellular carcinoma	Uncertain significance	rs141192935, rs2139642033	RCV005925650 RCV005930211
Hereditary ataxia	Uncertain significance	rs756291410	RCV005626323
Hereditary spastic paraplegia 5A	Conflicting classifications of pathogenicity	rs762271422	RCV000626090
Lung cancer	Benign; Likely benign	rs117502632	RCV005891927
Lymphoma	Benign; Likely benign	rs149309642	RCV005891923
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	rs11188411, rs375782465	RCV005920468 RCV005891926
Malignant tumor of esophagus	Benign	rs11188411	RCV005920467
Melanoma	Benign; Likely benign	rs149309642	RCV005891925
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs149309642	RCV005891924
Sarcoma	Benign; Likely benign	rs149309642	RCV005891921
See cases	Uncertain significance	rs1266603998	RCV002252408
Spondyloepiphyseal dysplasia, Stanescu type	Conflicting classifications of pathogenicity	rs765380273, rs773714478	RCV000850403 RCV000850402
Uterine carcinosarcoma	Benign; Uncertain significance	rs11188411, rs368147360	RCV005920469 RCV005896763
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs117502632	RCV005891928

ALDH18A1 (aldehyde dehydrogenase 18 family member A1)