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	23259
Gene name	DDHD domain containing 2
Gene symbol	DDHD2
Synonyms (NCBI Gene)	SAMWD1SPG54iPLA(1)gammaiPLA1AiPLA1gammap125B
Chromosome	8
Chromosome location	8p11.23
Summary	This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recess

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201258800	C>G,T	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant
rs373856119	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs375168720	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs398122826	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant, synonymous variant, 5 prime UTR variant
rs398122837	AT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs753950471	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs755267771	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs797045521	GG>TA	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs867389476	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs886037659	C>G	Pathogenic	Genic downstream transcript variant, intron variant
rs939799061	C>A,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant, synonymous variant
rs1249841130	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1312739762	T>-,TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1424300803	C>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1475369039	A>-	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1554510884	->GATGCTGG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1554511216	AGACGATGTACGTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1554515767	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1585774873	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant

206

Show/Hide all (206)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030366	hsa-miR-24-3p	Microarray	19748357
MIRT030682	hsa-miR-21-5p	Microarray	18591254
MIRT031442	hsa-miR-16-5p	Sequencing	20371350
MIRT047446	hsa-miR-10b-5p	CLASH	23622248
MIRT044196	hsa-miR-99b-5p	CLASH	23622248
MIRT105849	hsa-miR-5692a	PAR-CLIP	21572407
MIRT105846	hsa-miR-3646	PAR-CLIP	21572407
MIRT105845	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT105844	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT105850	hsa-miR-5692b	PAR-CLIP	21572407
MIRT105848	hsa-miR-5692c	PAR-CLIP	21572407
MIRT558441	hsa-miR-6831-3p	PAR-CLIP	21572407
MIRT527390	hsa-miR-3677-5p	PAR-CLIP	22012620
MIRT527391	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT527389	hsa-miR-1-5p	PAR-CLIP	22012620
MIRT527388	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT527387	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT527386	hsa-miR-4727-3p	PAR-CLIP	22012620
MIRT527384	hsa-miR-4460	PAR-CLIP	22012620
MIRT527385	hsa-miR-587	PAR-CLIP	22012620
MIRT733569	hsa-miR-296-3p	Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting	33479208
MIRT733569	hsa-miR-296-3p	Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting	33479208
MIRT105849	hsa-miR-5692a	PAR-CLIP	21572407
MIRT105846	hsa-miR-3646	PAR-CLIP	21572407
MIRT105845	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT105844	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT105850	hsa-miR-5692b	PAR-CLIP	21572407
MIRT105848	hsa-miR-5692c	PAR-CLIP	21572407
MIRT558441	hsa-miR-6831-3p	PAR-CLIP	21572407
MIRT527390	hsa-miR-3677-5p	PAR-CLIP	22012620
MIRT527391	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT527389	hsa-miR-1-5p	PAR-CLIP	22012620
MIRT527388	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT527387	hsa-miR-4738-3p	PAR-CLIP	22012620
MIRT527386	hsa-miR-4727-3p	PAR-CLIP	22012620
MIRT527384	hsa-miR-4460	PAR-CLIP	22012620
MIRT527385	hsa-miR-587	PAR-CLIP	22012620
MIRT929091	hsa-miR-103a	CLIP-seq
MIRT929092	hsa-miR-107	CLIP-seq
MIRT929093	hsa-miR-10a	CLIP-seq
MIRT929094	hsa-miR-10b	CLIP-seq
MIRT929095	hsa-miR-1207-3p	CLIP-seq
MIRT929096	hsa-miR-1207-5p	CLIP-seq
MIRT929097	hsa-miR-1245b-3p	CLIP-seq
MIRT929098	hsa-miR-125a-3p	CLIP-seq
MIRT929099	hsa-miR-1276	CLIP-seq
MIRT929100	hsa-miR-1283	CLIP-seq
MIRT929101	hsa-miR-1290	CLIP-seq
MIRT929102	hsa-miR-1297	CLIP-seq
MIRT929103	hsa-miR-1299	CLIP-seq
MIRT929104	hsa-miR-1301	CLIP-seq
MIRT929105	hsa-miR-1343	CLIP-seq
MIRT929106	hsa-miR-146a	CLIP-seq
MIRT929107	hsa-miR-146b-5p	CLIP-seq
MIRT929108	hsa-miR-21	CLIP-seq
MIRT929109	hsa-miR-2110	CLIP-seq
MIRT929110	hsa-miR-25	CLIP-seq
MIRT929111	hsa-miR-26a	CLIP-seq
MIRT929112	hsa-miR-26b	CLIP-seq
MIRT929113	hsa-miR-3065-5p	CLIP-seq
MIRT929114	hsa-miR-3117-5p	CLIP-seq
MIRT929115	hsa-miR-3125	CLIP-seq
MIRT929116	hsa-miR-3150b-3p	CLIP-seq
MIRT929117	hsa-miR-3165	CLIP-seq
MIRT929118	hsa-miR-3167	CLIP-seq
MIRT929119	hsa-miR-32	CLIP-seq
MIRT929120	hsa-miR-345	CLIP-seq
MIRT929121	hsa-miR-3620	CLIP-seq
MIRT929122	hsa-miR-363	CLIP-seq
MIRT929123	hsa-miR-3647-3p	CLIP-seq
MIRT929124	hsa-miR-3665	CLIP-seq
MIRT929125	hsa-miR-367	CLIP-seq
MIRT929126	hsa-miR-369-3p	CLIP-seq
MIRT929127	hsa-miR-374a	CLIP-seq
MIRT929128	hsa-miR-374b	CLIP-seq
MIRT929129	hsa-miR-3916	CLIP-seq
MIRT929130	hsa-miR-3925-5p	CLIP-seq
MIRT929131	hsa-miR-4271	CLIP-seq
MIRT929132	hsa-miR-4311	CLIP-seq
MIRT929133	hsa-miR-4314	CLIP-seq
MIRT929134	hsa-miR-4465	CLIP-seq
MIRT929135	hsa-miR-4469	CLIP-seq
MIRT929136	hsa-miR-4477a	CLIP-seq
MIRT929137	hsa-miR-4503	CLIP-seq
MIRT929138	hsa-miR-4504	CLIP-seq
MIRT929139	hsa-miR-4522	CLIP-seq
MIRT929140	hsa-miR-4533	CLIP-seq
MIRT929141	hsa-miR-4646-5p	CLIP-seq
MIRT929142	hsa-miR-4650-5p	CLIP-seq
MIRT929143	hsa-miR-4652-3p	CLIP-seq
MIRT929144	hsa-miR-4661-3p	CLIP-seq
MIRT929145	hsa-miR-4667-5p	CLIP-seq
MIRT929146	hsa-miR-4689	CLIP-seq
MIRT929147	hsa-miR-4700-5p	CLIP-seq
MIRT929148	hsa-miR-4705	CLIP-seq
MIRT929149	hsa-miR-4725-3p	CLIP-seq
MIRT929150	hsa-miR-4736	CLIP-seq
MIRT929151	hsa-miR-4747-5p	CLIP-seq
MIRT929152	hsa-miR-4753-5p	CLIP-seq
MIRT929153	hsa-miR-4755-3p	CLIP-seq
MIRT929154	hsa-miR-4763-3p	CLIP-seq
MIRT929155	hsa-miR-4766-3p	CLIP-seq
MIRT929156	hsa-miR-4778-5p	CLIP-seq
MIRT929157	hsa-miR-4784	CLIP-seq
MIRT929158	hsa-miR-4793-5p	CLIP-seq
MIRT929159	hsa-miR-495	CLIP-seq
MIRT929160	hsa-miR-5047	CLIP-seq
MIRT929161	hsa-miR-512-5p	CLIP-seq
MIRT929162	hsa-miR-518d-5p	CLIP-seq
MIRT929163	hsa-miR-519b-5p	CLIP-seq
MIRT929164	hsa-miR-519c-5p	CLIP-seq
MIRT929165	hsa-miR-520c-5p	CLIP-seq
MIRT929166	hsa-miR-520d-5p	CLIP-seq
MIRT929167	hsa-miR-524-5p	CLIP-seq
MIRT929168	hsa-miR-526a	CLIP-seq
MIRT929169	hsa-miR-548p	CLIP-seq
MIRT929170	hsa-miR-552	CLIP-seq
MIRT929171	hsa-miR-583	CLIP-seq
MIRT929172	hsa-miR-590-5p	CLIP-seq
MIRT929173	hsa-miR-601	CLIP-seq
MIRT929174	hsa-miR-637	CLIP-seq
MIRT929175	hsa-miR-642a	CLIP-seq
MIRT929176	hsa-miR-875-3p	CLIP-seq
MIRT929177	hsa-miR-876-5p	CLIP-seq
MIRT929178	hsa-miR-92a	CLIP-seq
MIRT929179	hsa-miR-92b	CLIP-seq
MIRT929096	hsa-miR-1207-5p	CLIP-seq
MIRT929180	hsa-miR-1286	CLIP-seq
MIRT929101	hsa-miR-1290	CLIP-seq
MIRT929104	hsa-miR-1301	CLIP-seq
MIRT929109	hsa-miR-2110	CLIP-seq
MIRT929181	hsa-miR-216b	CLIP-seq
MIRT929182	hsa-miR-3124-3p	CLIP-seq
MIRT929115	hsa-miR-3125	CLIP-seq
MIRT929116	hsa-miR-3150b-3p	CLIP-seq
MIRT929118	hsa-miR-3167	CLIP-seq
MIRT929123	hsa-miR-3647-3p	CLIP-seq
MIRT929129	hsa-miR-3916	CLIP-seq
MIRT929183	hsa-miR-3942-5p	CLIP-seq
MIRT929184	hsa-miR-4263	CLIP-seq
MIRT929131	hsa-miR-4271	CLIP-seq
MIRT929133	hsa-miR-4314	CLIP-seq
MIRT929185	hsa-miR-4509	CLIP-seq
MIRT929140	hsa-miR-4533	CLIP-seq
MIRT929144	hsa-miR-4661-3p	CLIP-seq
MIRT929186	hsa-miR-4663	CLIP-seq
MIRT929145	hsa-miR-4667-5p	CLIP-seq
MIRT929146	hsa-miR-4689	CLIP-seq
MIRT929147	hsa-miR-4700-5p	CLIP-seq
MIRT929187	hsa-miR-4703-5p	CLIP-seq
MIRT929188	hsa-miR-4710	CLIP-seq
MIRT929189	hsa-miR-4722-5p	CLIP-seq
MIRT929149	hsa-miR-4725-3p	CLIP-seq
MIRT929150	hsa-miR-4736	CLIP-seq
MIRT929190	hsa-miR-4742-5p	CLIP-seq
MIRT929191	hsa-miR-4744	CLIP-seq
MIRT929151	hsa-miR-4747-5p	CLIP-seq
MIRT929192	hsa-miR-4753-3p	CLIP-seq
MIRT929154	hsa-miR-4763-3p	CLIP-seq
MIRT929193	hsa-miR-4773	CLIP-seq
MIRT929157	hsa-miR-4784	CLIP-seq
MIRT929194	hsa-miR-4792	CLIP-seq
MIRT929195	hsa-miR-4799-5p	CLIP-seq
MIRT929160	hsa-miR-5047	CLIP-seq
MIRT929196	hsa-miR-513c	CLIP-seq
MIRT929197	hsa-miR-514b-5p	CLIP-seq
MIRT929198	hsa-miR-576-5p	CLIP-seq
MIRT929199	hsa-miR-628-5p	CLIP-seq
MIRT929174	hsa-miR-637	CLIP-seq
MIRT929177	hsa-miR-876-5p	CLIP-seq
MIRT929096	hsa-miR-1207-5p	CLIP-seq
MIRT929105	hsa-miR-1343	CLIP-seq
MIRT1975151	hsa-miR-142-5p	CLIP-seq
MIRT929108	hsa-miR-21	CLIP-seq
MIRT1975152	hsa-miR-340	CLIP-seq
MIRT1975153	hsa-miR-4660	CLIP-seq
MIRT1975154	hsa-miR-4676-5p	CLIP-seq
MIRT929148	hsa-miR-4705	CLIP-seq
MIRT929188	hsa-miR-4710	CLIP-seq
MIRT929150	hsa-miR-4736	CLIP-seq
MIRT929190	hsa-miR-4742-5p	CLIP-seq
MIRT929154	hsa-miR-4763-3p	CLIP-seq
MIRT1975155	hsa-miR-4786-3p	CLIP-seq
MIRT929194	hsa-miR-4792	CLIP-seq
MIRT929158	hsa-miR-4793-5p	CLIP-seq
MIRT1975156	hsa-miR-501-3p	CLIP-seq
MIRT1975157	hsa-miR-502-3p	CLIP-seq
MIRT1975158	hsa-miR-548u	CLIP-seq
MIRT1975159	hsa-miR-575	CLIP-seq
MIRT929172	hsa-miR-590-5p	CLIP-seq
MIRT2210521	hsa-miR-1322	CLIP-seq
MIRT929115	hsa-miR-3125	CLIP-seq
MIRT929129	hsa-miR-3916	CLIP-seq
MIRT2210522	hsa-miR-548c-3p	CLIP-seq
MIRT929096	hsa-miR-1207-5p	CLIP-seq
MIRT929188	hsa-miR-4710	CLIP-seq
MIRT929150	hsa-miR-4736	CLIP-seq
MIRT929154	hsa-miR-4763-3p	CLIP-seq
MIRT929194	hsa-miR-4792	CLIP-seq
MIRT2514502	hsa-miR-3614-3p	CLIP-seq
MIRT2514503	hsa-miR-3672	CLIP-seq
MIRT2514504	hsa-miR-421	CLIP-seq
MIRT2514505	hsa-miR-4277	CLIP-seq
MIRT2514506	hsa-miR-595	CLIP-seq
MIRT2679139	hsa-miR-4307	CLIP-seq
MIRT2679140	hsa-miR-567	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence
GO:0000266	Process	Mitochondrial fission	IEA
GO:0004620	Function	Phospholipase activity	IBA
GO:0004806	Function	Triacylglycerol lipase activity	IBA
GO:0004806	Function	Triacylglycerol lipase activity	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008542	Process	Visual learning	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019433	Process	Triglyceride catabolic process	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IBA
GO:0034389	Process	Lipid droplet organization	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0090141	Process	Positive regulation of mitochondrial fission	IEA
GO:0120516	Function	Diacylglycerol lipase activity	IEA

MIM	HGNC	e!Ensembl
615003	29106	ENSG00000085788

O94830

Protein name

Triacylglycerol hydrolase DDHD2 (TAG hydrolase) (EC 3.1.1.3) (DDHD domain-containing protein 2) (KIAA0725p) (Phospholipase DDHD2) (EC 3.1.1.-) (SAM, WWE and DDHD domain-containing protein 1) (Triglyceride hydrolase DDHD2) (Triglyceride lipase)

Protein function

Diacylglycerol (DAG) and triacylglycerol (TAG) lipase required for proper lipid homeostasis in the central nervous system (PubMed:29278326, PubMed:37832604). It cooperates with PNPLA2/ATGL in neuronal TAG catabolism and hydrolyzes sn-1,3 DAG dow

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02825	WWE	42 → 112	WWE domain	Family
PF00536	SAM_1	384 → 445	SAM domain (Sterile alpha motif)	Domain
PF02862	DDHD	495 → 699	DDHD domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (at protein level). {ECO:0000269|PubMed:11788596}.

Sequence

MSSVQSQQEQLSQSDPSPSPNSCSSFELIDMDAGSLYEPVSPHWFYCKIIDSKETWIPFN
SEDSQQLEEAYSSGKGCNGRVVPTDGGRYDVHLGERMRYAVYWDELASEVRRCTWFYKGD
KDNKYVPYSESFSQVLEETYMLAVTLDEWKKKLESPNREIIILHNPKLMVHYQPVAGSDD
WGSTPTEQGRPRTVKRGVENISVDIHCGEPLQIDHLVFVVHGIGPACDLRFRSIVQCVND
FRSVSLNLLQTHFKKAQENQQIGRVEFLPVNWHSPLHSTGVDVDLQRITLPSINRLRHFT
NDTILDVFFYNSPTYCQTIVDTVASEMNRIYTLFLQRNPDFKGGVSIAGHSLGSLILFDI
LTNQKDSLGDIDSEKDSLNIVMDQGDTPTLEEDLKKLQLSEFFDIFEKEKVDKEALALCT
DRDLQEIGIPLGPRKKILNYFSTRKNSMGIKRPAPQPASGANIPKESEFCSSSNTRNGDY
LDVGIGQVSVKYPRLIYKPEIFFAFGSPIGMFLTVRGLKRIDPNYRFPTCKGFFNIYHPF
DPVAYRIEPMVVPGVEFEPMLIPHHKGRKRMHLELREGLTRMSMDLKNNLLGSLRMAWKS
FTRAPYPALQASETPEETEAEPESTSEKPSDVNTEETSVAVKEEVLPINVGMLNGGQRID
YVLQEKPIESFNEYLFALQSHLCYWESEDTVLLVLKEIYQTQGIFLDQPLQ

Sequence length

711

Interactions

View interactions

	Reactome
			Synthesis of PA

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Generalized epilepsy	Likely pathogenic; Pathogenic	rs375168720	RCV000449619	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs375168720	RCV000449619	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs764638887, rs375168720	RCV001848409 RCV001847628	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 54	Pathogenic; Likely pathogenic	rs886037659, rs764638887, rs2130822605, rs2486922970, rs1805323000, rs377024163, rs2486749357, rs2486999855, rs2486793601, rs2486857105, rs2486993028, rs201258800, rs1475369039, rs1312739762, rs1585774873 View all (10 more)	RCV000087336 RCV003388054 RCV002266477 RCV002289305 RCV002630027 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Obesity	Likely pathogenic; Pathogenic	rs375168720	RCV000449619	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Senior-Loken syndrome 6	Pathogenic	rs886037659	RCV005859504	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDHD2-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, GENERALIZED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 54, 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

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	23486545, 25417924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	24337409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	23486545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 54	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	32366953	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25653011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25653011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25653011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	37420318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	40596960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	37420318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	CLINVAR_DG	23176823, 24337409, 24517879, 25417924		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gangliosidosis GM1	Gangliosidosis	BEFREE	27679996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	23486545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	23176823, 23486545, 24337409, 25267624, 31302745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	25417924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23486545, 25417924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25417924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25653011		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30038238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26113134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CLINVAR_DG	23176823, 24337409, 24517879, 25417924		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paraplegia	Paraplegia	Pubtator	23176823, 23486545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	37420318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	32366953	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	33462483	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Ataxia	Spastic Ataxia	BEFREE	25417924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	25417924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	30038238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	23176823, 23486545, 30038238		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG	23176823, 23486545		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE	Spastic Paraplegia	UNIPROT_DG	23176823, 24482476		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	23176823, 25417924		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE	Spastic Paraplegia	ORPHANET_DG	23176823		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	23176823, 23486545, 24337409, 25417924, 26113134, 27679996, 37420318, 38332048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	23176823, 25267624, 29278326, 30038238, 31302745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	40596960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33479208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DDHD2 (DDHD domain containing 2)