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	210
Gene name	Aminolevulinate dehydratase
Gene symbol	ALAD
Synonyms (NCBI Gene)	ALADHPBGS
Chromosome	9
Chromosome location	9q32
Summary	The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin a

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800435	C>G	Pathogenic, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs121912980	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912981	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs121912982	G>A	Pathogenic, uncertain-significance	Downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs121912983	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs121912984	G>A,C	Likely-pathogenic, pathogenic	Non coding transcript variant, synonymous variant, 5 prime UTR variant, coding sequence variant, missense variant
rs749066913	G>A,T	Pathogenic	Intron variant

259

Show/Hide all (259)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021588	hsa-miR-142-3p	Microarray	17612493
MIRT050633	hsa-miR-19b-3p	CLASH	23622248
MIRT527170	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT527169	hsa-miR-4272	PAR-CLIP	22012620
MIRT372415	hsa-miR-8063	PAR-CLIP	22012620
MIRT402752	hsa-miR-4698	PAR-CLIP	22012620
MIRT527168	hsa-miR-556-3p	PAR-CLIP	22012620
MIRT527170	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT527169	hsa-miR-4272	PAR-CLIP	22012620
MIRT372415	hsa-miR-8063	PAR-CLIP	22012620
MIRT402752	hsa-miR-4698	PAR-CLIP	22012620
MIRT527168	hsa-miR-556-3p	PAR-CLIP	22012620
MIRT776804	hsa-miR-103a	CLIP-seq
MIRT776805	hsa-miR-107	CLIP-seq
MIRT776806	hsa-miR-124	CLIP-seq
MIRT776807	hsa-miR-1272	CLIP-seq
MIRT776808	hsa-miR-1322	CLIP-seq
MIRT776809	hsa-miR-154	CLIP-seq
MIRT776810	hsa-miR-15a	CLIP-seq
MIRT776811	hsa-miR-15b	CLIP-seq
MIRT776812	hsa-miR-16	CLIP-seq
MIRT776813	hsa-miR-1915	CLIP-seq
MIRT776814	hsa-miR-195	CLIP-seq
MIRT776815	hsa-miR-197	CLIP-seq
MIRT776816	hsa-miR-205	CLIP-seq
MIRT776817	hsa-miR-2052	CLIP-seq
MIRT776818	hsa-miR-2861	CLIP-seq
MIRT776819	hsa-miR-3152-5p	CLIP-seq
MIRT776820	hsa-miR-3153	CLIP-seq
MIRT776821	hsa-miR-3168	CLIP-seq
MIRT776822	hsa-miR-3176	CLIP-seq
MIRT776823	hsa-miR-331-5p	CLIP-seq
MIRT776824	hsa-miR-3616-3p	CLIP-seq
MIRT776825	hsa-miR-3663-3p	CLIP-seq
MIRT776826	hsa-miR-3677-3p	CLIP-seq
MIRT776827	hsa-miR-3714	CLIP-seq
MIRT776828	hsa-miR-3910	CLIP-seq
MIRT776829	hsa-miR-3921	CLIP-seq
MIRT776830	hsa-miR-3922-3p	CLIP-seq
MIRT776831	hsa-miR-424	CLIP-seq
MIRT776832	hsa-miR-4277	CLIP-seq
MIRT776833	hsa-miR-4310	CLIP-seq
MIRT776834	hsa-miR-4325	CLIP-seq
MIRT776835	hsa-miR-4469	CLIP-seq
MIRT776836	hsa-miR-4477b	CLIP-seq
MIRT776837	hsa-miR-4653-5p	CLIP-seq
MIRT776838	hsa-miR-4668-5p	CLIP-seq
MIRT776839	hsa-miR-4678	CLIP-seq
MIRT776840	hsa-miR-4682	CLIP-seq
MIRT776841	hsa-miR-4699-3p	CLIP-seq
MIRT776842	hsa-miR-4721	CLIP-seq
MIRT776843	hsa-miR-4724-5p	CLIP-seq
MIRT776844	hsa-miR-4726-3p	CLIP-seq
MIRT776845	hsa-miR-4757-5p	CLIP-seq
MIRT776846	hsa-miR-4774-3p	CLIP-seq
MIRT776847	hsa-miR-4799-5p	CLIP-seq
MIRT776848	hsa-miR-497	CLIP-seq
MIRT776849	hsa-miR-506	CLIP-seq
MIRT776850	hsa-miR-507	CLIP-seq
MIRT776851	hsa-miR-532-5p	CLIP-seq
MIRT776852	hsa-miR-557	CLIP-seq
MIRT776853	hsa-miR-579	CLIP-seq
MIRT776854	hsa-miR-635	CLIP-seq
MIRT776855	hsa-miR-642a	CLIP-seq
MIRT776856	hsa-miR-645	CLIP-seq
MIRT776857	hsa-miR-656	CLIP-seq
MIRT776858	hsa-miR-659	CLIP-seq
MIRT776859	hsa-miR-711	CLIP-seq
MIRT776860	hsa-miR-9	CLIP-seq
MIRT776861	hsa-miR-940	CLIP-seq
MIRT776806	hsa-miR-124	CLIP-seq
MIRT1929386	hsa-miR-1245b-5p	CLIP-seq
MIRT1929387	hsa-miR-1269	CLIP-seq
MIRT1929388	hsa-miR-1269b	CLIP-seq
MIRT1929389	hsa-miR-128	CLIP-seq
MIRT1929390	hsa-miR-140-5p	CLIP-seq
MIRT1929391	hsa-miR-145	CLIP-seq
MIRT1929392	hsa-miR-2467-3p	CLIP-seq
MIRT1929393	hsa-miR-3064-3p	CLIP-seq
MIRT1929394	hsa-miR-3142	CLIP-seq
MIRT776821	hsa-miR-3168	CLIP-seq
MIRT1929395	hsa-miR-3198	CLIP-seq
MIRT1929396	hsa-miR-3614-5p	CLIP-seq
MIRT776824	hsa-miR-3616-3p	CLIP-seq
MIRT776827	hsa-miR-3714	CLIP-seq
MIRT776828	hsa-miR-3910	CLIP-seq
MIRT776832	hsa-miR-4277	CLIP-seq
MIRT1929397	hsa-miR-4278	CLIP-seq
MIRT1929398	hsa-miR-4288	CLIP-seq
MIRT1929399	hsa-miR-4309	CLIP-seq
MIRT1929400	hsa-miR-432	CLIP-seq
MIRT776836	hsa-miR-4477b	CLIP-seq
MIRT1929401	hsa-miR-4529-3p	CLIP-seq
MIRT1929402	hsa-miR-4653-3p	CLIP-seq
MIRT1929403	hsa-miR-4688	CLIP-seq
MIRT776841	hsa-miR-4699-3p	CLIP-seq
MIRT1929404	hsa-miR-4727-5p	CLIP-seq
MIRT1929405	hsa-miR-4769-3p	CLIP-seq
MIRT1929406	hsa-miR-4802-3p	CLIP-seq
MIRT1929407	hsa-miR-486-3p	CLIP-seq
MIRT776849	hsa-miR-506	CLIP-seq
MIRT1929408	hsa-miR-5096	CLIP-seq
MIRT1929409	hsa-miR-513c	CLIP-seq
MIRT1929410	hsa-miR-514b-5p	CLIP-seq
MIRT1929411	hsa-miR-571	CLIP-seq
MIRT1929412	hsa-miR-632	CLIP-seq
MIRT776858	hsa-miR-659	CLIP-seq
MIRT776860	hsa-miR-9	CLIP-seq
MIRT776804	hsa-miR-103a	CLIP-seq
MIRT776805	hsa-miR-107	CLIP-seq
MIRT2169929	hsa-miR-1236	CLIP-seq
MIRT1929386	hsa-miR-1245b-5p	CLIP-seq
MIRT1929387	hsa-miR-1269	CLIP-seq
MIRT1929388	hsa-miR-1269b	CLIP-seq
MIRT2169930	hsa-miR-1273d	CLIP-seq
MIRT1929389	hsa-miR-128	CLIP-seq
MIRT2169931	hsa-miR-137	CLIP-seq
MIRT2169932	hsa-miR-138	CLIP-seq
MIRT1929390	hsa-miR-140-5p	CLIP-seq
MIRT776810	hsa-miR-15a	CLIP-seq
MIRT776811	hsa-miR-15b	CLIP-seq
MIRT776812	hsa-miR-16	CLIP-seq
MIRT2169933	hsa-miR-1910	CLIP-seq
MIRT776813	hsa-miR-1915	CLIP-seq
MIRT776814	hsa-miR-195	CLIP-seq
MIRT776816	hsa-miR-205	CLIP-seq
MIRT776817	hsa-miR-2052	CLIP-seq
MIRT1929392	hsa-miR-2467-3p	CLIP-seq
MIRT2169934	hsa-miR-25	CLIP-seq
MIRT2169935	hsa-miR-2682	CLIP-seq
MIRT2169936	hsa-miR-3124-3p	CLIP-seq
MIRT2169937	hsa-miR-3127-5p	CLIP-seq
MIRT1929394	hsa-miR-3142	CLIP-seq
MIRT776821	hsa-miR-3168	CLIP-seq
MIRT1929395	hsa-miR-3198	CLIP-seq
MIRT2169938	hsa-miR-32	CLIP-seq
MIRT2169939	hsa-miR-330-3p	CLIP-seq
MIRT776824	hsa-miR-3616-3p	CLIP-seq
MIRT2169940	hsa-miR-363	CLIP-seq
MIRT2169941	hsa-miR-367	CLIP-seq
MIRT776831	hsa-miR-424	CLIP-seq
MIRT2169942	hsa-miR-4269	CLIP-seq
MIRT2169943	hsa-miR-4270	CLIP-seq
MIRT776832	hsa-miR-4277	CLIP-seq
MIRT1929397	hsa-miR-4278	CLIP-seq
MIRT1929399	hsa-miR-4309	CLIP-seq
MIRT776833	hsa-miR-4310	CLIP-seq
MIRT1929400	hsa-miR-432	CLIP-seq
MIRT2169944	hsa-miR-4326	CLIP-seq
MIRT2169945	hsa-miR-4441	CLIP-seq
MIRT2169946	hsa-miR-449c	CLIP-seq
MIRT2169947	hsa-miR-4514	CLIP-seq
MIRT1929401	hsa-miR-4529-3p	CLIP-seq
MIRT2169948	hsa-miR-455-3p	CLIP-seq
MIRT2169949	hsa-miR-4645-5p	CLIP-seq
MIRT1929402	hsa-miR-4653-3p	CLIP-seq
MIRT2169950	hsa-miR-4659a-3p	CLIP-seq
MIRT2169951	hsa-miR-4659b-3p	CLIP-seq
MIRT2169952	hsa-miR-4673	CLIP-seq
MIRT776840	hsa-miR-4682	CLIP-seq
MIRT2169953	hsa-miR-4685-5p	CLIP-seq
MIRT1929403	hsa-miR-4688	CLIP-seq
MIRT2169954	hsa-miR-4692	CLIP-seq
MIRT776841	hsa-miR-4699-3p	CLIP-seq
MIRT776842	hsa-miR-4721	CLIP-seq
MIRT2169955	hsa-miR-4728-3p	CLIP-seq
MIRT2169956	hsa-miR-4742-5p	CLIP-seq
MIRT2169957	hsa-miR-4778-3p	CLIP-seq
MIRT776847	hsa-miR-4799-5p	CLIP-seq
MIRT1929406	hsa-miR-4802-3p	CLIP-seq
MIRT1929407	hsa-miR-486-3p	CLIP-seq
MIRT2169958	hsa-miR-491-3p	CLIP-seq
MIRT776848	hsa-miR-497	CLIP-seq
MIRT2169959	hsa-miR-516a-3p	CLIP-seq
MIRT2169960	hsa-miR-518a-5p	CLIP-seq
MIRT2169961	hsa-miR-527	CLIP-seq
MIRT2169962	hsa-miR-569	CLIP-seq
MIRT1929411	hsa-miR-571	CLIP-seq
MIRT2169963	hsa-miR-626	CLIP-seq
MIRT2169964	hsa-miR-640	CLIP-seq
MIRT2169965	hsa-miR-92a	CLIP-seq
MIRT2169966	hsa-miR-92b	CLIP-seq
MIRT2472817	hsa-miR-1265	CLIP-seq
MIRT2472818	hsa-miR-1301	CLIP-seq
MIRT2472819	hsa-miR-1908	CLIP-seq
MIRT776813	hsa-miR-1915	CLIP-seq
MIRT776815	hsa-miR-197	CLIP-seq
MIRT2472820	hsa-miR-2392	CLIP-seq
MIRT2472821	hsa-miR-3127-3p	CLIP-seq
MIRT2472822	hsa-miR-3128	CLIP-seq
MIRT2472823	hsa-miR-3180	CLIP-seq
MIRT2472824	hsa-miR-3180-3p	CLIP-seq
MIRT2472825	hsa-miR-3184	CLIP-seq
MIRT2472826	hsa-miR-3196	CLIP-seq
MIRT2472827	hsa-miR-335	CLIP-seq
MIRT2472828	hsa-miR-339-5p	CLIP-seq
MIRT2472829	hsa-miR-346	CLIP-seq
MIRT2472830	hsa-miR-3667-3p	CLIP-seq
MIRT2472831	hsa-miR-3670	CLIP-seq
MIRT2472832	hsa-miR-3689a-3p	CLIP-seq
MIRT2472833	hsa-miR-3689c	CLIP-seq
MIRT2472834	hsa-miR-3925-3p	CLIP-seq
MIRT2472835	hsa-miR-423-5p	CLIP-seq
MIRT2472836	hsa-miR-4271	CLIP-seq
MIRT1929398	hsa-miR-4288	CLIP-seq
MIRT2472837	hsa-miR-4453	CLIP-seq
MIRT2472838	hsa-miR-4470	CLIP-seq
MIRT2472839	hsa-miR-452	CLIP-seq
MIRT2472840	hsa-miR-4538	CLIP-seq
MIRT2169948	hsa-miR-455-3p	CLIP-seq
MIRT2472841	hsa-miR-4660	CLIP-seq
MIRT2472842	hsa-miR-4676-3p	CLIP-seq
MIRT2472843	hsa-miR-4706	CLIP-seq
MIRT2472844	hsa-miR-4725-3p	CLIP-seq
MIRT2472845	hsa-miR-4728-5p	CLIP-seq
MIRT2472846	hsa-miR-4749-5p	CLIP-seq
MIRT2472847	hsa-miR-498	CLIP-seq
MIRT2472848	hsa-miR-499-3p	CLIP-seq
MIRT2472849	hsa-miR-499a-3p	CLIP-seq
MIRT2472850	hsa-miR-5047	CLIP-seq
MIRT2472851	hsa-miR-548aa	CLIP-seq
MIRT2472852	hsa-miR-548q	CLIP-seq
MIRT2472853	hsa-miR-606	CLIP-seq
MIRT1929412	hsa-miR-632	CLIP-seq
MIRT2472854	hsa-miR-654-3p	CLIP-seq
MIRT2472855	hsa-miR-663	CLIP-seq
MIRT2472856	hsa-miR-670	CLIP-seq
MIRT2472817	hsa-miR-1265	CLIP-seq
MIRT2472818	hsa-miR-1301	CLIP-seq
MIRT2472819	hsa-miR-1908	CLIP-seq
MIRT776813	hsa-miR-1915	CLIP-seq
MIRT2472820	hsa-miR-2392	CLIP-seq
MIRT2472823	hsa-miR-3180	CLIP-seq
MIRT2472824	hsa-miR-3180-3p	CLIP-seq
MIRT2472825	hsa-miR-3184	CLIP-seq
MIRT2472826	hsa-miR-3196	CLIP-seq
MIRT2674881	hsa-miR-3607-5p	CLIP-seq
MIRT2472831	hsa-miR-3670	CLIP-seq
MIRT2472832	hsa-miR-3689a-3p	CLIP-seq
MIRT2472833	hsa-miR-3689c	CLIP-seq
MIRT2472834	hsa-miR-3925-3p	CLIP-seq
MIRT2472835	hsa-miR-423-5p	CLIP-seq
MIRT2472836	hsa-miR-4271	CLIP-seq
MIRT776834	hsa-miR-4325	CLIP-seq
MIRT2472837	hsa-miR-4453	CLIP-seq
MIRT2674882	hsa-miR-4468	CLIP-seq
MIRT2472840	hsa-miR-4538	CLIP-seq
MIRT2169948	hsa-miR-455-3p	CLIP-seq
MIRT2472841	hsa-miR-4660	CLIP-seq
MIRT2472843	hsa-miR-4706	CLIP-seq
MIRT2472844	hsa-miR-4725-3p	CLIP-seq
MIRT2472845	hsa-miR-4728-5p	CLIP-seq
MIRT2472846	hsa-miR-4749-5p	CLIP-seq
MIRT2472850	hsa-miR-5047	CLIP-seq
MIRT776850	hsa-miR-507	CLIP-seq
MIRT776852	hsa-miR-557	CLIP-seq
MIRT776853	hsa-miR-579	CLIP-seq
MIRT2674883	hsa-miR-621	CLIP-seq
MIRT2472855	hsa-miR-663	CLIP-seq

Show/Hide all (72)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003824	Function	Catalytic activity	TAS	2063868
GO:0004655	Function	Porphobilinogen synthase activity	IBA
GO:0004655	Function	Porphobilinogen synthase activity	IDA	8175643, 11032836
GO:0004655	Function	Porphobilinogen synthase activity	IEA
GO:0004655	Function	Porphobilinogen synthase activity	TAS	3463993
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IDA	11032836
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IBA
GO:0006783	Process	Heme biosynthetic process	IDA	11032836
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	TAS	3758678
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006785	Process	Heme B biosynthetic process	IDA	11032836
GO:0006785	Process	Heme B biosynthetic process	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0008270	Function	Zinc ion binding	IBA
GO:0008270	Function	Zinc ion binding	IDA	11032836
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009635	Process	Response to herbicide	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0010038	Process	Response to metal ion	IEA
GO:0010039	Process	Response to iron ion	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0010044	Process	Response to aluminum ion	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010266	Process	Response to vitamin B1	IEA
GO:0010269	Process	Response to selenium ion	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032025	Process	Response to cobalt ion	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0033014	Process	Tetrapyrrole biosynthetic process	IEA
GO:0033197	Process	Response to vitamin E	IEA
GO:0033273	Process	Response to vitamin	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	11032836
GO:0043200	Process	Response to amino acid	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046689	Process	Response to mercury ion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048034	Process	Heme O biosynthetic process	IEA
GO:0051260	Process	Protein homooligomerization	IPI	11032836
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051597	Process	Response to methylmercury	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070541	Process	Response to platinum ion	IEA
GO:0070542	Process	Response to fatty acid	IEA
GO:0071284	Process	Cellular response to lead ion	IEA
GO:0071353	Process	Cellular response to interleukin-4	IEA
GO:1901799	Process	Negative regulation of proteasomal protein catabolic process	IDA	8175643
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS
GO:1904854	Function	Proteasome core complex binding	IEA

MIM	HGNC	e!Ensembl
125270	395	ENSG00000148218

P13716

Protein name

Delta-aminolevulinic acid dehydratase (ALADH) (EC 4.2.1.24) (Porphobilinogen synthase)

Protein function

Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen. {ECO:0000269|PubMed:11032836, ECO:0000269|PubM

PDB

1E51 , 1PV8 , 5HMS , 5HNR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00490	ALAD	5 → 326	Delta-aminolevulinic acid dehydratase	Domain

Sequence

MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKR
LEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACD
VCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKE
ALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDR
DVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAV
LEAMTAFRRAGADIIITYYTPQLLQWLKEE

Sequence length

330

Interactions

View interactions

	KEGG		Reactome
	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors		Heme biosynthesis Neutrophil degranulation

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Porphobilinogen synthase deficiency	Likely pathogenic; Pathogenic	rs121912980, rs121912983, rs749066913, rs2490398166	RCV000018358 RCV000018362 RCV000018364 RCV000018365 RCV003993650	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (31)

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.
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALAD1/ALAD2 POLYMORPHISM	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALAD-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SICKLE CELL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGICAL DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA CUTANEA TARDA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY	—	ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA, ACUTE HEPATIC	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA, ACUTE HEPATIC, DIGENIC	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIAS, HEPATIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (110)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	10604794, 7067077, 7287003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	22851944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	Pubtator	22851944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12896855, 16909025, 20406759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	12896855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	25955609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioblastic Meningioma	Angioblastic Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angiomatous Meningioma	Angiomatous Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	17823382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18639233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	16140629, 20798009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	16140629, 20798009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28403546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28403546	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35318110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21799727, 33221754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21293208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Convexity Meningioma	Cerebral Convexity Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	21799727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear Cell Meningioma	Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	19798568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	21799727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	19798568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21799727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30831097, 31368580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	10604794, 11929054, 15303011, 1569184, 17236137, 2063868, 25387219, 7287003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	19798568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28276576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	25226513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrous Meningioma	Fibrous Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	25239657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	19798568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	BEFREE	24500903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20798009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XII	Glycogen storage disease	Pubtator	517518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioblastic Meningioma	Hemangioblastic Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangiopericytic Meningioma	Hemangiopericytic Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	CTD_human_DG	24631795		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	27584680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31368580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11335187	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	11335187, 20123609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	20123609		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	LHGDN	17291479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intraorbital Meningioma	Intraorbital Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intraventricular Meningioma	Intraventricular Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	19798568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	23792432, 24631795		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	21799727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12469218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	25226513		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Meningioma	Malignant Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28403546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24500903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24500903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24500903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	CTD_human_DG	16140629		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	16140629	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningiomas, Multiple	Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningothelial meningioma	Meningothelial Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcystic meningioma	Microcystic Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	17823382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	25239657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Olfactory Groove Meningioma	Olfactory Groove Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	18639233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Meningioma	Papillary Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	21799727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parasagittal Meningioma	Parasagittal Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27650074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	3678479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	11929054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphobilinogen synthase deficiency	Porphobilinogen Synthase Deficiency	BEFREE	10706561, 15303011, 17236137		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphobilinogen synthase deficiency	Porphobilinogen Synthase Deficiency	UNIPROT_DG	10706561, 1309003, 1569184, 17236137, 2063868		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphobilinogen synthase deficiency	Porphobilinogen Synthase Deficiency	ORPHANET_DG	16343966, 2063868		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphobilinogen synthase deficiency	Porphobilinogen Synthase Deficiency	GENOMICS_ENGLAND_DG	2063868, 27604308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphobilinogen synthase deficiency	Porphobilinogen Synthase Deficiency	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphobilinogen synthase deficiency	Porphobilinogen Synthase Deficiency	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porphyria Acute Hepatic	Porphyria	Pubtator	11071662, 517518	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Acute Hepatic	Porphyria	Pubtator	11071662, 17236137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	16935474	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria due to ALA dehydratase deficiency	Porphyria	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyrias	Porphyria	Pubtator	11071662, 17236137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyrias, Hepatic	Hepatic porphyria	CTD_human_DG	1905639, 3684400		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posterior Fossa Meningioma	Fossa Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24500903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24500903		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24500903	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psammomatous Meningioma	Psammomatous Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	25955609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21799727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	CTD_human_DG	25070658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	21799727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secretory meningioma	Secretory Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	19798568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sphenoid Wing Meningioma	Sphenoid Wing Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	19798568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional Meningioma	Transitional Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	6652907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Neoplasms	Urogenital neoplasm	Pubtator	24500903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	19798568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthomatous Meningioma	Xanthomatous Meningioma	CTD_human_DG	16140629		★★★★★ ★☆☆☆☆ Found in Text Mining only

ALAD (aminolevulinate dehydratase)