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	271
Gene name	Adenosine monophosphate deaminase 2
Gene symbol	AMPD2
Synonyms (NCBI Gene)	AMPDPCH9SPG63
Chromosome	1
Chromosome location	1p13.3
Summary	The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have b

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41280332	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs145268448	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs192669225	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs587777391	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs587777392	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777393	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777394	G>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777395	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777769	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs746332433	G>C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs753591864	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs760433806	C>T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs869312928	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs875989844	C>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1131691563	T>G	Pathogenic	Splice donor variant
rs1131691574	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1156299044	TG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs1553230375	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

257

Show/Hide all (257)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052568	hsa-let-7a-5p	CLASH	23622248
MIRT051656	hsa-let-7e-5p	CLASH	23622248
MIRT050367	hsa-miR-24-3p	CLASH	23622248
MIRT047663	hsa-miR-10a-5p	CLASH	23622248
MIRT041932	hsa-miR-484	CLASH	23622248
MIRT036636	hsa-miR-939-5p	CLASH	23622248
MIRT780597	hsa-miR-106a	CLIP-seq
MIRT780598	hsa-miR-106b	CLIP-seq
MIRT780599	hsa-miR-1224-5p	CLIP-seq
MIRT780600	hsa-miR-17	CLIP-seq
MIRT780601	hsa-miR-1908	CLIP-seq
MIRT780602	hsa-miR-20a	CLIP-seq
MIRT780603	hsa-miR-20b	CLIP-seq
MIRT780604	hsa-miR-2467-3p	CLIP-seq
MIRT780605	hsa-miR-302a	CLIP-seq
MIRT780606	hsa-miR-302b	CLIP-seq
MIRT780607	hsa-miR-302c	CLIP-seq
MIRT780608	hsa-miR-302d	CLIP-seq
MIRT780609	hsa-miR-302e	CLIP-seq
MIRT780610	hsa-miR-3619-3p	CLIP-seq
MIRT780611	hsa-miR-3678-3p	CLIP-seq
MIRT780612	hsa-miR-372	CLIP-seq
MIRT780613	hsa-miR-373	CLIP-seq
MIRT780614	hsa-miR-4476	CLIP-seq
MIRT780615	hsa-miR-4649-3p	CLIP-seq
MIRT780616	hsa-miR-4751	CLIP-seq
MIRT780617	hsa-miR-4760-5p	CLIP-seq
MIRT780618	hsa-miR-4776-5p	CLIP-seq
MIRT780619	hsa-miR-4786-5p	CLIP-seq
MIRT780620	hsa-miR-490-5p	CLIP-seq
MIRT780621	hsa-miR-512-3p	CLIP-seq
MIRT780622	hsa-miR-519d	CLIP-seq
MIRT780623	hsa-miR-520a-3p	CLIP-seq
MIRT780624	hsa-miR-520b	CLIP-seq
MIRT780625	hsa-miR-520c-3p	CLIP-seq
MIRT780626	hsa-miR-520d-3p	CLIP-seq
MIRT780627	hsa-miR-520e	CLIP-seq
MIRT780628	hsa-miR-541	CLIP-seq
MIRT780629	hsa-miR-548n	CLIP-seq
MIRT780630	hsa-miR-548t	CLIP-seq
MIRT780631	hsa-miR-654-5p	CLIP-seq
MIRT780632	hsa-miR-663	CLIP-seq
MIRT780633	hsa-miR-93	CLIP-seq
MIRT1930436	hsa-miR-1972	CLIP-seq
MIRT1930437	hsa-miR-3065-3p	CLIP-seq
MIRT1930438	hsa-miR-3164	CLIP-seq
MIRT1930439	hsa-miR-3193	CLIP-seq
MIRT1930440	hsa-miR-338-3p	CLIP-seq
MIRT1930441	hsa-miR-4530	CLIP-seq
MIRT1930442	hsa-miR-4632	CLIP-seq
MIRT1930443	hsa-miR-4650-5p	CLIP-seq
MIRT1930444	hsa-miR-4730	CLIP-seq
MIRT1930445	hsa-miR-510	CLIP-seq
MIRT1930446	hsa-miR-576-3p	CLIP-seq
MIRT2384141	hsa-miR-1913	CLIP-seq
MIRT2384142	hsa-miR-324-3p	CLIP-seq
MIRT2384143	hsa-miR-4638-5p	CLIP-seq
MIRT2384144	hsa-miR-4749-3p	CLIP-seq
MIRT2384145	hsa-miR-4763-5p	CLIP-seq
MIRT780597	hsa-miR-106a	CLIP-seq
MIRT780598	hsa-miR-106b	CLIP-seq
MIRT780599	hsa-miR-1224-5p	CLIP-seq
MIRT2473715	hsa-miR-1253	CLIP-seq
MIRT2473716	hsa-miR-1285	CLIP-seq
MIRT2473717	hsa-miR-1291	CLIP-seq
MIRT2473718	hsa-miR-134	CLIP-seq
MIRT2473719	hsa-miR-1587	CLIP-seq
MIRT780600	hsa-miR-17	CLIP-seq
MIRT2473720	hsa-miR-184	CLIP-seq
MIRT780601	hsa-miR-1908	CLIP-seq
MIRT2384141	hsa-miR-1913	CLIP-seq
MIRT1930436	hsa-miR-1972	CLIP-seq
MIRT780602	hsa-miR-20a	CLIP-seq
MIRT780603	hsa-miR-20b	CLIP-seq
MIRT2473721	hsa-miR-214	CLIP-seq
MIRT2473722	hsa-miR-221	CLIP-seq
MIRT2473723	hsa-miR-222	CLIP-seq
MIRT780604	hsa-miR-2467-3p	CLIP-seq
MIRT780605	hsa-miR-302a	CLIP-seq
MIRT780606	hsa-miR-302b	CLIP-seq
MIRT780607	hsa-miR-302c	CLIP-seq
MIRT780608	hsa-miR-302d	CLIP-seq
MIRT780609	hsa-miR-302e	CLIP-seq
MIRT1930437	hsa-miR-3065-3p	CLIP-seq
MIRT2473724	hsa-miR-3118	CLIP-seq
MIRT2473725	hsa-miR-3136-5p	CLIP-seq
MIRT2473726	hsa-miR-3144-5p	CLIP-seq
MIRT1930438	hsa-miR-3164	CLIP-seq
MIRT2473727	hsa-miR-3187-5p	CLIP-seq
MIRT2473728	hsa-miR-3191	CLIP-seq
MIRT1930439	hsa-miR-3193	CLIP-seq
MIRT2384142	hsa-miR-324-3p	CLIP-seq
MIRT1930440	hsa-miR-338-3p	CLIP-seq
MIRT2473729	hsa-miR-34a	CLIP-seq
MIRT2473730	hsa-miR-34c-5p	CLIP-seq
MIRT2473731	hsa-miR-3619-5p	CLIP-seq
MIRT2473732	hsa-miR-3670	CLIP-seq
MIRT780611	hsa-miR-3678-3p	CLIP-seq
MIRT780612	hsa-miR-372	CLIP-seq
MIRT780613	hsa-miR-373	CLIP-seq
MIRT2473733	hsa-miR-3919	CLIP-seq
MIRT2473734	hsa-miR-3926	CLIP-seq
MIRT2473735	hsa-miR-4257	CLIP-seq
MIRT2473736	hsa-miR-4291	CLIP-seq
MIRT2473737	hsa-miR-4417	CLIP-seq
MIRT2473738	hsa-miR-4434	CLIP-seq
MIRT2473739	hsa-miR-4439	CLIP-seq
MIRT780614	hsa-miR-4476	CLIP-seq
MIRT2473740	hsa-miR-4492	CLIP-seq
MIRT2473741	hsa-miR-4498	CLIP-seq
MIRT2473742	hsa-miR-449a	CLIP-seq
MIRT2473743	hsa-miR-449b	CLIP-seq
MIRT2473744	hsa-miR-4505	CLIP-seq
MIRT2473745	hsa-miR-4513	CLIP-seq
MIRT2473746	hsa-miR-4516	CLIP-seq
MIRT1930441	hsa-miR-4530	CLIP-seq
MIRT2473747	hsa-miR-4533	CLIP-seq
MIRT1930442	hsa-miR-4632	CLIP-seq
MIRT2384143	hsa-miR-4638-5p	CLIP-seq
MIRT780615	hsa-miR-4649-3p	CLIP-seq
MIRT1930443	hsa-miR-4650-5p	CLIP-seq
MIRT2473748	hsa-miR-4652-5p	CLIP-seq
MIRT2473749	hsa-miR-4656	CLIP-seq
MIRT2473750	hsa-miR-4665-3p	CLIP-seq
MIRT2473751	hsa-miR-4667-5p	CLIP-seq
MIRT2473752	hsa-miR-4675	CLIP-seq
MIRT2473753	hsa-miR-4700-3p	CLIP-seq
MIRT2473754	hsa-miR-4700-5p	CLIP-seq
MIRT1930444	hsa-miR-4730	CLIP-seq
MIRT2473755	hsa-miR-4731-5p	CLIP-seq
MIRT2473756	hsa-miR-4732-5p	CLIP-seq
MIRT2473757	hsa-miR-4741	CLIP-seq
MIRT2473758	hsa-miR-4747-3p	CLIP-seq
MIRT2384144	hsa-miR-4749-3p	CLIP-seq
MIRT780616	hsa-miR-4751	CLIP-seq
MIRT780617	hsa-miR-4760-5p	CLIP-seq
MIRT2384145	hsa-miR-4763-5p	CLIP-seq
MIRT780619	hsa-miR-4786-5p	CLIP-seq
MIRT1930445	hsa-miR-510	CLIP-seq
MIRT780621	hsa-miR-512-3p	CLIP-seq
MIRT780622	hsa-miR-519d	CLIP-seq
MIRT780623	hsa-miR-520a-3p	CLIP-seq
MIRT780624	hsa-miR-520b	CLIP-seq
MIRT780625	hsa-miR-520c-3p	CLIP-seq
MIRT780626	hsa-miR-520d-3p	CLIP-seq
MIRT780627	hsa-miR-520e	CLIP-seq
MIRT780629	hsa-miR-548n	CLIP-seq
MIRT2473759	hsa-miR-548s	CLIP-seq
MIRT780630	hsa-miR-548t	CLIP-seq
MIRT1930446	hsa-miR-576-3p	CLIP-seq
MIRT2473760	hsa-miR-612	CLIP-seq
MIRT2473761	hsa-miR-645	CLIP-seq
MIRT780632	hsa-miR-663	CLIP-seq
MIRT2473762	hsa-miR-671-5p	CLIP-seq
MIRT2473763	hsa-miR-761	CLIP-seq
MIRT2473764	hsa-miR-762	CLIP-seq
MIRT2473765	hsa-miR-922	CLIP-seq
MIRT780633	hsa-miR-93	CLIP-seq
MIRT780597	hsa-miR-106a	CLIP-seq
MIRT780598	hsa-miR-106b	CLIP-seq
MIRT780599	hsa-miR-1224-5p	CLIP-seq
MIRT2473715	hsa-miR-1253	CLIP-seq
MIRT2473716	hsa-miR-1285	CLIP-seq
MIRT2473717	hsa-miR-1291	CLIP-seq
MIRT2473718	hsa-miR-134	CLIP-seq
MIRT2473719	hsa-miR-1587	CLIP-seq
MIRT780600	hsa-miR-17	CLIP-seq
MIRT2473720	hsa-miR-184	CLIP-seq
MIRT780601	hsa-miR-1908	CLIP-seq
MIRT2384141	hsa-miR-1913	CLIP-seq
MIRT1930436	hsa-miR-1972	CLIP-seq
MIRT780602	hsa-miR-20a	CLIP-seq
MIRT780603	hsa-miR-20b	CLIP-seq
MIRT2473721	hsa-miR-214	CLIP-seq
MIRT2473722	hsa-miR-221	CLIP-seq
MIRT2473723	hsa-miR-222	CLIP-seq
MIRT780604	hsa-miR-2467-3p	CLIP-seq
MIRT780605	hsa-miR-302a	CLIP-seq
MIRT780606	hsa-miR-302b	CLIP-seq
MIRT780607	hsa-miR-302c	CLIP-seq
MIRT780608	hsa-miR-302d	CLIP-seq
MIRT780609	hsa-miR-302e	CLIP-seq
MIRT1930437	hsa-miR-3065-3p	CLIP-seq
MIRT2473724	hsa-miR-3118	CLIP-seq
MIRT2473725	hsa-miR-3136-5p	CLIP-seq
MIRT2473726	hsa-miR-3144-5p	CLIP-seq
MIRT1930438	hsa-miR-3164	CLIP-seq
MIRT2473727	hsa-miR-3187-5p	CLIP-seq
MIRT2473728	hsa-miR-3191	CLIP-seq
MIRT1930439	hsa-miR-3193	CLIP-seq
MIRT2384142	hsa-miR-324-3p	CLIP-seq
MIRT1930440	hsa-miR-338-3p	CLIP-seq
MIRT2473729	hsa-miR-34a	CLIP-seq
MIRT2473730	hsa-miR-34c-5p	CLIP-seq
MIRT2473731	hsa-miR-3619-5p	CLIP-seq
MIRT2473732	hsa-miR-3670	CLIP-seq
MIRT780611	hsa-miR-3678-3p	CLIP-seq
MIRT780612	hsa-miR-372	CLIP-seq
MIRT780613	hsa-miR-373	CLIP-seq
MIRT2473733	hsa-miR-3919	CLIP-seq
MIRT2473734	hsa-miR-3926	CLIP-seq
MIRT2473735	hsa-miR-4257	CLIP-seq
MIRT2473736	hsa-miR-4291	CLIP-seq
MIRT2473737	hsa-miR-4417	CLIP-seq
MIRT2473738	hsa-miR-4434	CLIP-seq
MIRT2473739	hsa-miR-4439	CLIP-seq
MIRT780614	hsa-miR-4476	CLIP-seq
MIRT2473740	hsa-miR-4492	CLIP-seq
MIRT2473741	hsa-miR-4498	CLIP-seq
MIRT2473742	hsa-miR-449a	CLIP-seq
MIRT2473743	hsa-miR-449b	CLIP-seq
MIRT2473744	hsa-miR-4505	CLIP-seq
MIRT2473745	hsa-miR-4513	CLIP-seq
MIRT2473746	hsa-miR-4516	CLIP-seq
MIRT1930441	hsa-miR-4530	CLIP-seq
MIRT2473747	hsa-miR-4533	CLIP-seq
MIRT1930442	hsa-miR-4632	CLIP-seq
MIRT2384143	hsa-miR-4638-5p	CLIP-seq
MIRT780615	hsa-miR-4649-3p	CLIP-seq
MIRT1930443	hsa-miR-4650-5p	CLIP-seq
MIRT2473748	hsa-miR-4652-5p	CLIP-seq
MIRT2473749	hsa-miR-4656	CLIP-seq
MIRT2473750	hsa-miR-4665-3p	CLIP-seq
MIRT2473751	hsa-miR-4667-5p	CLIP-seq
MIRT2473752	hsa-miR-4675	CLIP-seq
MIRT2473753	hsa-miR-4700-3p	CLIP-seq
MIRT2473754	hsa-miR-4700-5p	CLIP-seq
MIRT1930444	hsa-miR-4730	CLIP-seq
MIRT2473755	hsa-miR-4731-5p	CLIP-seq
MIRT2473756	hsa-miR-4732-5p	CLIP-seq
MIRT2473757	hsa-miR-4741	CLIP-seq
MIRT2473758	hsa-miR-4747-3p	CLIP-seq
MIRT2384144	hsa-miR-4749-3p	CLIP-seq
MIRT780616	hsa-miR-4751	CLIP-seq
MIRT780617	hsa-miR-4760-5p	CLIP-seq
MIRT2384145	hsa-miR-4763-5p	CLIP-seq
MIRT780619	hsa-miR-4786-5p	CLIP-seq
MIRT1930445	hsa-miR-510	CLIP-seq
MIRT780621	hsa-miR-512-3p	CLIP-seq
MIRT780622	hsa-miR-519d	CLIP-seq
MIRT780623	hsa-miR-520a-3p	CLIP-seq
MIRT780624	hsa-miR-520b	CLIP-seq
MIRT780625	hsa-miR-520c-3p	CLIP-seq
MIRT780626	hsa-miR-520d-3p	CLIP-seq
MIRT780627	hsa-miR-520e	CLIP-seq
MIRT780629	hsa-miR-548n	CLIP-seq
MIRT2473759	hsa-miR-548s	CLIP-seq
MIRT780630	hsa-miR-548t	CLIP-seq
MIRT1930446	hsa-miR-576-3p	CLIP-seq
MIRT2473760	hsa-miR-612	CLIP-seq
MIRT2473761	hsa-miR-645	CLIP-seq
MIRT780632	hsa-miR-663	CLIP-seq
MIRT2473762	hsa-miR-671-5p	CLIP-seq
MIRT2473763	hsa-miR-761	CLIP-seq
MIRT2473764	hsa-miR-762	CLIP-seq
MIRT2473765	hsa-miR-922	CLIP-seq
MIRT780633	hsa-miR-93	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003876	Function	AMP deaminase activity	IBA
GO:0003876	Function	AMP deaminase activity	IEA
GO:0003876	Function	AMP deaminase activity	IGI	23911318
GO:0003876	Function	AMP deaminase activity	NAS	8764830
GO:0005515	Function	Protein binding	IPI	21044950, 25416956, 31515488, 32296183, 33961781, 34819669
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006188	Process	IMP biosynthetic process	IBA
GO:0006188	Process	IMP biosynthetic process	IEA
GO:0006188	Process	IMP biosynthetic process	IEA
GO:0006188	Process	IMP biosynthetic process	IGI	23911318
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009168	Process	Purine ribonucleoside monophosphate biosynthetic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019239	Function	Deaminase activity	IEA
GO:0032264	Process	IMP salvage	IEA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046033	Process	AMP metabolic process	IBA
GO:0046033	Process	AMP metabolic process	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046039	Process	GTP metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0052652	Process	Cyclic purine nucleotide metabolic process	IMP	23911318
GO:0072015	Process	Podocyte development	IEA
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	IGI	23911318

MIM	HGNC	e!Ensembl
102771	469	ENSG00000116337

Q01433

Protein name

AMP deaminase 2 (EC 3.5.4.6) (AMP deaminase isoform L)

Protein function

AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.

PDB

4NO3 , 4NO5 , 8HU6 , 8HUB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00962	A_deaminase	411 → 818	Adenosine/AMP deaminase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in cerebellum. {ECO:0000269|PubMed:23911318}.

Sequence

MRNRGQGLFRLRSRCFLHQSLPLGAGRRKGLDVAEPGPSRCRSDSPAVAAVVPAMASYPS
GSGKPKAKYPFKKRASLQASTAAPEARGGLGAPPLQSARSLPGPAPCLKHFPLDLRTSMD
GKCKEIAEELFTRSLAESELRSAPYEFPEESPIEQLEERRQRLERQISQDVKLEPDILLR
AKQDFLKTDSDSDLQLYKEQGEGQGDRSLRERDVLEREFQRVTISGEEKCGVPFTDLLDA
AKSVVRALFIREKYMALSLQSFCPTTRRYLQQLAEKPLETRTYEQGPDTPVSADAPVHPP
ALEQHPYEHCEPSTMPGDLGLGLRMVRGVVHVYTRREPDEHCSEVELPYPDLQEFVADVN
VLMALIINGPIKSFCYRRLQYLSSKFQMHVLLNEMKELAAQKKVPHRDFYNIRKVDTHIH
ASSCMNQKHLLRFIKRAMKRHLEEIVHVEQGREQTLREVFESMNLTAYDLSVDTLDVHAD
RNTFHRFDKFNAKYNPIGESVLREIFIKTDNRVSGKYFAHIIKEVMSDLEESKYQNAELR
LSIYGRSRDEWDKLARWAVMHRVHSPNVRWLVQVPRLFDVYRTKGQLANFQEMLENIFLP
LFEATVHPASHPELHLFLEHVDGFDSVDDESKPENHVFNLESPLPEAWVEEDNPPYAYYL
YYTFANMAMLNHLRRQRGFHTFVLRPHCGEAGPIHHLVSAFMLAENISHGLLLRKAPVLQ
YLYYLAQIGIAMSPLSNNSLFLSYHRNPLPEYLSRGLMVSLSTDDPLQFHFTKEPLMEEY
SIATQVWKLSSCDMCELARNSVLMSGFSHKVKSHWLGPNYTKEGPEGNDIRRTNVPDIRV
GYRYETLCQELALITQAVQSEMLETIPEEAGITMSPGPQ

Sequence length

879

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Nucleotide metabolism Cytoskeleton in muscle cells		Purine salvage

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Pathogenic	rs2101158688	RCV001814353	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 63	Pathogenic; Likely pathogenic	rs587777769, rs587777395, rs1650988132, rs150197784, rs775612117, rs2524377118, rs2524398223, rs2524415501, rs773911916	RCV000087328 RCV002515805 RCV002040456 RCV003774934 RCV003775018 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 9	Pathogenic; Likely pathogenic	rs2101154713, rs587777395, rs774256040, rs1329101309, rs587777391, rs587777392, rs587777393, rs587777394, rs1650988132, rs150197784, rs775612117, rs2524377118, rs2524398223, rs2524415501, rs875989844 View all (6 more)	RCV001420164 RCV001420165 RCV001785327 RCV001824272 RCV000119278 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontoneocerebellar hypoplasia	Likely pathogenic; Pathogenic	rs587777395, rs775612117, rs753591864, rs760433806	RCV005431474 RCV002308638 RCV005056507 RCV003987758	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs2101160657	RCV001647190	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (36)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMPD2-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain malformation	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF PART OF BRAIN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDRANENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LISSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 9	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29463858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 63	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	29463858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	23911318, 29463858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	23911318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	27572404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	29463858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29463858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23152807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glycogen Storage Disease Type V	Glycogen Storage Disease	BEFREE	17687759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19253308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18493842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	18493842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	30577810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30577810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	30267407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29292037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	10918252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	29463858		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	29463858	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	18493842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23911318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia	Pontocerebellar hypoplasia	Pubtator	29463858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar hypoplasia type 9	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PONTOCEREBELLAR HYPOPLASIA, TYPE 9	Pontoneocerebellar hypoplasia	ORPHANET_DG	23911318		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 9	Pontoneocerebellar hypoplasia	UNIPROT_DG	23911318		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 9	Pontoneocerebellar hypoplasia	GENOMICS_ENGLAND_DG	23911318, 24482476, 27159321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 9	Pontoneocerebellar hypoplasia	BEFREE	29463858, 30089829, 31833174		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 9	Pontoneocerebellar hypoplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 9	Pontoneocerebellar hypoplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	23911318, 29463858		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	BEFREE	29463858, 30089829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	24482476		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	27159321		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	23152807		★★★★★ ★☆☆☆☆ Found in Text Mining only
STICKLER SYNDROME, TYPE II (disorder)	Stickler syndrome	BEFREE	31833174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	29463858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AMPD2 (adenosine monophosphate deaminase 2)