PLD1 (phospholipase D1)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5337
• Gene name: Phospholipase D1
• Gene symbol: PLD1
• Synonyms (NCBI Gene): CVDD, CVDP1
• Chromosome: 3
• Chromosome location: 3q26.31
• Summary: This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternativ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs556433569	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs769669104	T>C,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs778311238	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1085307450	A>C,G	Pathogenic	Splice donor variant

miRNA Show/Hide all (226)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031003	hsa-miR-21-5p	Microarray	18591254
MIRT732277	hsa-miR-638	Immunohistochemistry, Luciferase reporter assay, Microarray	26250158
MIRT732277	hsa-miR-638	Immunohistochemistry, Luciferase reporter assay, Microarray	26250158
MIRT734484	hsa-miR-122-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32337269
MIRT736754	hsa-miR-320a	Flow cytometry	32725633
MIRT736755	hsa-miR-4496	Western blotting	32725633
MIRT1240237	hsa-miR-1238	CLIP-seq
MIRT1240238	hsa-miR-3200-5p	CLIP-seq
MIRT1240239	hsa-miR-4303	CLIP-seq
MIRT1240240	hsa-miR-4328	CLIP-seq
MIRT1240241	hsa-miR-103a	CLIP-seq
MIRT1240242	hsa-miR-107	CLIP-seq
MIRT1240243	hsa-miR-1184	CLIP-seq
MIRT1240244	hsa-miR-1587	CLIP-seq
MIRT1240245	hsa-miR-3908	CLIP-seq
MIRT1240246	hsa-miR-409-3p	CLIP-seq
MIRT1240247	hsa-miR-4492	CLIP-seq
MIRT1240248	hsa-miR-4498	CLIP-seq
MIRT1240249	hsa-miR-4656	CLIP-seq
MIRT1240250	hsa-miR-4675	CLIP-seq
MIRT1240251	hsa-miR-4741	CLIP-seq
MIRT1240252	hsa-miR-762	CLIP-seq
MIRT2070657	hsa-miR-4775	CLIP-seq
MIRT2070658	hsa-miR-590-3p	CLIP-seq
MIRT2297808	hsa-miR-4712-3p	CLIP-seq
MIRT2070657	hsa-miR-4775	CLIP-seq
MIRT2070658	hsa-miR-590-3p	CLIP-seq
MIRT1240241	hsa-miR-103a	CLIP-seq
MIRT2595230	hsa-miR-106a	CLIP-seq
MIRT2595231	hsa-miR-106b	CLIP-seq
MIRT1240242	hsa-miR-107	CLIP-seq
MIRT2595232	hsa-miR-1236	CLIP-seq
MIRT2595233	hsa-miR-1245b-3p	CLIP-seq
MIRT2595234	hsa-miR-1256	CLIP-seq
MIRT2595235	hsa-miR-1257	CLIP-seq
MIRT2595236	hsa-miR-125a-5p	CLIP-seq
MIRT2595237	hsa-miR-125b	CLIP-seq
MIRT2595238	hsa-miR-1262	CLIP-seq
MIRT2595239	hsa-miR-127-5p	CLIP-seq
MIRT2595240	hsa-miR-1323	CLIP-seq
MIRT2595241	hsa-miR-134	CLIP-seq
MIRT2595242	hsa-miR-142-5p	CLIP-seq
MIRT2595243	hsa-miR-148a	CLIP-seq
MIRT2595244	hsa-miR-148b	CLIP-seq
MIRT2595245	hsa-miR-152	CLIP-seq
MIRT2595246	hsa-miR-15a	CLIP-seq
MIRT2595247	hsa-miR-15b	CLIP-seq
MIRT2595248	hsa-miR-16	CLIP-seq
MIRT2595249	hsa-miR-17	CLIP-seq
MIRT2595250	hsa-miR-188-5p	CLIP-seq
MIRT2595251	hsa-miR-1909	CLIP-seq
MIRT2595252	hsa-miR-195	CLIP-seq
MIRT2595253	hsa-miR-202	CLIP-seq
MIRT2595254	hsa-miR-203	CLIP-seq
MIRT2595255	hsa-miR-20a	CLIP-seq
MIRT2595256	hsa-miR-20b	CLIP-seq
MIRT2595257	hsa-miR-2113	CLIP-seq
MIRT2595258	hsa-miR-217	CLIP-seq
MIRT2595259	hsa-miR-218	CLIP-seq
MIRT2595260	hsa-miR-223	CLIP-seq
MIRT2595261	hsa-miR-27a	CLIP-seq
MIRT2595262	hsa-miR-27b	CLIP-seq
MIRT2595263	hsa-miR-3074-3p	CLIP-seq
MIRT2595264	hsa-miR-3117-5p	CLIP-seq
MIRT2595265	hsa-miR-3118	CLIP-seq
MIRT2595266	hsa-miR-3136-5p	CLIP-seq
MIRT2595267	hsa-miR-3140-5p	CLIP-seq
MIRT2595268	hsa-miR-3148	CLIP-seq
MIRT2595269	hsa-miR-3180-5p	CLIP-seq
MIRT2595270	hsa-miR-3182	CLIP-seq
MIRT2595271	hsa-miR-3185	CLIP-seq
MIRT2595272	hsa-miR-324-5p	CLIP-seq
MIRT2595273	hsa-miR-346	CLIP-seq
MIRT2595274	hsa-miR-3609	CLIP-seq
MIRT2595275	hsa-miR-361-5p	CLIP-seq
MIRT2595276	hsa-miR-3668	CLIP-seq
MIRT2595277	hsa-miR-3920	CLIP-seq
MIRT2595278	hsa-miR-3977	CLIP-seq
MIRT2595279	hsa-miR-424	CLIP-seq
MIRT2595280	hsa-miR-4257	CLIP-seq
MIRT2595281	hsa-miR-4268	CLIP-seq
MIRT2595282	hsa-miR-4282	CLIP-seq
MIRT2595283	hsa-miR-4310	CLIP-seq
MIRT2595284	hsa-miR-4318	CLIP-seq
MIRT2595285	hsa-miR-4319	CLIP-seq
MIRT2595286	hsa-miR-4327	CLIP-seq
MIRT2595287	hsa-miR-4418	CLIP-seq
MIRT2595288	hsa-miR-4420	CLIP-seq
MIRT2595289	hsa-miR-4436a	CLIP-seq
MIRT2595290	hsa-miR-4436b-3p	CLIP-seq
MIRT2595291	hsa-miR-4439	CLIP-seq
MIRT2595292	hsa-miR-4448	CLIP-seq
MIRT2595293	hsa-miR-4452	CLIP-seq
MIRT2595294	hsa-miR-4457	CLIP-seq
MIRT2595295	hsa-miR-4468	CLIP-seq
MIRT2595296	hsa-miR-448	CLIP-seq
MIRT2595297	hsa-miR-4513	CLIP-seq
MIRT2595298	hsa-miR-4635	CLIP-seq
MIRT2595299	hsa-miR-4637	CLIP-seq
MIRT2595300	hsa-miR-4652-3p	CLIP-seq
MIRT2595301	hsa-miR-4653-3p	CLIP-seq
MIRT2595302	hsa-miR-4680-3p	CLIP-seq
MIRT2595303	hsa-miR-4688	CLIP-seq
MIRT2595304	hsa-miR-4693-5p	CLIP-seq
MIRT2595305	hsa-miR-4697-3p	CLIP-seq
MIRT2595306	hsa-miR-4701-3p	CLIP-seq
MIRT2595307	hsa-miR-4705	CLIP-seq
MIRT2595308	hsa-miR-4709-3p	CLIP-seq
MIRT2595309	hsa-miR-4732-3p	CLIP-seq
MIRT2595310	hsa-miR-4732-5p	CLIP-seq
MIRT2595311	hsa-miR-4742-3p	CLIP-seq
MIRT2595312	hsa-miR-4753-3p	CLIP-seq
MIRT2595313	hsa-miR-4760-3p	CLIP-seq
MIRT2595314	hsa-miR-4761-3p	CLIP-seq
MIRT2595315	hsa-miR-4768-5p	CLIP-seq
MIRT2070657	hsa-miR-4775	CLIP-seq
MIRT2595316	hsa-miR-4778-5p	CLIP-seq
MIRT2595317	hsa-miR-4789-3p	CLIP-seq
MIRT2595318	hsa-miR-4796-3p	CLIP-seq
MIRT2595319	hsa-miR-488	CLIP-seq
MIRT2595320	hsa-miR-497	CLIP-seq
MIRT2595321	hsa-miR-509-3-5p	CLIP-seq
MIRT2595322	hsa-miR-509-5p	CLIP-seq
MIRT2595323	hsa-miR-513a-3p	CLIP-seq
MIRT2595324	hsa-miR-513a-5p	CLIP-seq
MIRT2595325	hsa-miR-513b	CLIP-seq
MIRT2595326	hsa-miR-519d	CLIP-seq
MIRT2595327	hsa-miR-520a-5p	CLIP-seq
MIRT2595328	hsa-miR-525-5p	CLIP-seq
MIRT2595329	hsa-miR-548ah	CLIP-seq
MIRT2595330	hsa-miR-548g	CLIP-seq
MIRT2595331	hsa-miR-548o	CLIP-seq
MIRT2595332	hsa-miR-570	CLIP-seq
MIRT2595333	hsa-miR-579	CLIP-seq
MIRT2070658	hsa-miR-590-3p	CLIP-seq
MIRT2595334	hsa-miR-630	CLIP-seq
MIRT2595335	hsa-miR-635	CLIP-seq
MIRT2595336	hsa-miR-670	CLIP-seq
MIRT2595337	hsa-miR-671-5p	CLIP-seq
MIRT2595338	hsa-miR-759	CLIP-seq
MIRT2595339	hsa-miR-877	CLIP-seq
MIRT2595340	hsa-miR-892a	CLIP-seq
MIRT2595341	hsa-miR-93	CLIP-seq
MIRT2595342	hsa-miR-934	CLIP-seq
MIRT1240241	hsa-miR-103a	CLIP-seq
MIRT1240242	hsa-miR-107	CLIP-seq
MIRT2595232	hsa-miR-1236	CLIP-seq
MIRT2595233	hsa-miR-1245b-3p	CLIP-seq
MIRT2595234	hsa-miR-1256	CLIP-seq
MIRT2595235	hsa-miR-1257	CLIP-seq
MIRT2595236	hsa-miR-125a-5p	CLIP-seq
MIRT2595237	hsa-miR-125b	CLIP-seq
MIRT2595238	hsa-miR-1262	CLIP-seq
MIRT2595239	hsa-miR-127-5p	CLIP-seq
MIRT2595241	hsa-miR-134	CLIP-seq
MIRT2595243	hsa-miR-148a	CLIP-seq
MIRT2595244	hsa-miR-148b	CLIP-seq
MIRT2595245	hsa-miR-152	CLIP-seq
MIRT2595246	hsa-miR-15a	CLIP-seq
MIRT2595247	hsa-miR-15b	CLIP-seq
MIRT2595248	hsa-miR-16	CLIP-seq
MIRT2595250	hsa-miR-188-5p	CLIP-seq
MIRT2595251	hsa-miR-1909	CLIP-seq
MIRT2595252	hsa-miR-195	CLIP-seq
MIRT2595254	hsa-miR-203	CLIP-seq
MIRT2595257	hsa-miR-2113	CLIP-seq
MIRT2595259	hsa-miR-218	CLIP-seq
MIRT2595260	hsa-miR-223	CLIP-seq
MIRT2595261	hsa-miR-27a	CLIP-seq
MIRT2595262	hsa-miR-27b	CLIP-seq
MIRT2595264	hsa-miR-3117-5p	CLIP-seq
MIRT2595265	hsa-miR-3118	CLIP-seq
MIRT2595266	hsa-miR-3136-5p	CLIP-seq
MIRT2595268	hsa-miR-3148	CLIP-seq
MIRT2595269	hsa-miR-3180-5p	CLIP-seq
MIRT2595270	hsa-miR-3182	CLIP-seq
MIRT2595271	hsa-miR-3185	CLIP-seq
MIRT2595272	hsa-miR-324-5p	CLIP-seq
MIRT2595273	hsa-miR-346	CLIP-seq
MIRT2595276	hsa-miR-3668	CLIP-seq
MIRT2595277	hsa-miR-3920	CLIP-seq
MIRT2595279	hsa-miR-424	CLIP-seq
MIRT2595281	hsa-miR-4268	CLIP-seq
MIRT2595282	hsa-miR-4282	CLIP-seq
MIRT2595283	hsa-miR-4310	CLIP-seq
MIRT2595284	hsa-miR-4318	CLIP-seq
MIRT2595285	hsa-miR-4319	CLIP-seq
MIRT2595289	hsa-miR-4436a	CLIP-seq
MIRT2595290	hsa-miR-4436b-3p	CLIP-seq
MIRT2595291	hsa-miR-4439	CLIP-seq
MIRT2595292	hsa-miR-4448	CLIP-seq
MIRT2595294	hsa-miR-4457	CLIP-seq
MIRT2595295	hsa-miR-4468	CLIP-seq
MIRT2595297	hsa-miR-4513	CLIP-seq
MIRT2595298	hsa-miR-4635	CLIP-seq
MIRT2595299	hsa-miR-4637	CLIP-seq
MIRT2595301	hsa-miR-4653-3p	CLIP-seq
MIRT2595303	hsa-miR-4688	CLIP-seq
MIRT2595304	hsa-miR-4693-5p	CLIP-seq
MIRT2595305	hsa-miR-4697-3p	CLIP-seq
MIRT2595306	hsa-miR-4701-3p	CLIP-seq
MIRT2595307	hsa-miR-4705	CLIP-seq
MIRT2595309	hsa-miR-4732-3p	CLIP-seq
MIRT2595310	hsa-miR-4732-5p	CLIP-seq
MIRT2595311	hsa-miR-4742-3p	CLIP-seq
MIRT2595312	hsa-miR-4753-3p	CLIP-seq
MIRT2595313	hsa-miR-4760-3p	CLIP-seq
MIRT2595314	hsa-miR-4761-3p	CLIP-seq
MIRT2595315	hsa-miR-4768-5p	CLIP-seq
MIRT2070657	hsa-miR-4775	CLIP-seq
MIRT2595319	hsa-miR-488	CLIP-seq
MIRT2595320	hsa-miR-497	CLIP-seq
MIRT2595323	hsa-miR-513a-3p	CLIP-seq
MIRT2595324	hsa-miR-513a-5p	CLIP-seq
MIRT2595325	hsa-miR-513b	CLIP-seq
MIRT2595327	hsa-miR-520a-5p	CLIP-seq
MIRT2595328	hsa-miR-525-5p	CLIP-seq
MIRT2595330	hsa-miR-548g	CLIP-seq
MIRT2595332	hsa-miR-570	CLIP-seq
MIRT2595333	hsa-miR-579	CLIP-seq
MIRT2070658	hsa-miR-590-3p	CLIP-seq
MIRT2595334	hsa-miR-630	CLIP-seq
MIRT2595336	hsa-miR-670	CLIP-seq
MIRT2595338	hsa-miR-759	CLIP-seq
MIRT2595340	hsa-miR-892a	CLIP-seq
MIRT2595342	hsa-miR-934	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CTNNB1	Activation	20442281
PGR	Unknown	21284604
RXRA	Unknown	17433303
TCF4	Activation	20442281
VDR	Unknown	17433303

Gene ontology (GO) Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004630	Function	Phospholipase D activity	IBA
GO:0004630	Function	Phospholipase D activity	IDA	25936805
GO:0004630	Function	Phospholipase D activity	IEA
GO:0004630	Function	Phospholipase D activity	TAS	8530346
GO:0005515	Function	Protein binding	IPI	17853892, 18550814, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IDA	14718562
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA	14718562
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0006935	Process	Chemotaxis	TAS
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	TAS	8530346
GO:0007265	Process	Ras protein signal transduction	TAS
GO:0009395	Process	Phospholipid catabolic process	IBA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8530346
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016324	Component	Apical plasma membrane	IDA	22797597
GO:0016787	Function	Hydrolase activity	IEA
GO:0030139	Component	Endocytic vesicle	IDA	22797597
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031670	Process	Cellular response to nutrient	IDA	25936805
GO:0031902	Component	Late endosome membrane	IEA
GO:0031984	Component	Organelle subcompartment	IEA
GO:0032534	Process	Regulation of microvillus assembly	IBA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0045727	Process	Positive regulation of translation	IMP	25361009
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060627	Process	Regulation of vesicle-mediated transport	IBA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0098693	Process	Regulation of synaptic vesicle cycle	IDA	11752468
GO:0098693	Process	Regulation of synaptic vesicle cycle	IMP	11752468
GO:0098981	Component	Cholinergic synapse	IDA	11752468
GO:0098981	Component	Cholinergic synapse	IMP	11752468

Other IDs

• MIM: 602382
• HGNC: 9067
• e!Ensembl: ENSG00000075651

Protein

• UniProt ID: Q13393
• Protein name: Phospholipase D1 (PLD 1) (hPLD1) (EC 3.1.4.4) (Choline phosphatase 1) (Phosphatidylcholine-hydrolyzing phospholipase D1)
• Protein function: Function as phospholipase selective for phosphatidylcholine (PubMed:25936805, PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation o
• PDB: 6U8Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	220 → 328	PH domain	Domain
  PF00614	PLDc	459 → 486	Phospholipase D Active site motif	Family
  PF00787	PX	106 → 209	PX domain	Domain
  PF13091	PLDc_2	766 → 942	PLD-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine. {ECO:0000269|PubMed:9582313}.
• Sequence:

  MSLKNEPRVNTSALQKIAADMSNIIENLDTRELHFEGEEVDYDVSPSDPKIQEVYIPFSA
  IYNTQGFKEPNIQTYLSGCPIKAQVLEVERFTSTTRVPSINLYTIELTHGEFKWQVKRKF
  KHFQEFHRELLKYKAFIRIPIPTRRHTFRRQNVREEPREMPSLPRSSENMIREEQFLGRR
  KQLEDYLTKILKMPMYRNYHATTEFLDISQLSFIHDLGPKGIEGMIMKRSGGHRIPGLNC
  CGQGRACYRWSKRWLIVKDSFLLYMKPDSGAIAFVLLVDKEFKIKVGKKETETKYGIRID
  NLSRTLILKCNSYRHARWWGGAIEEFIQKHGTNFLKDHRFGSYAAIQENALAKWYVNAKG
  YFEDVANAMEEANEEIFITDWWLSPEIFLKRPVVEGNRWRLDCILKRKAQQGVRIFIMLY
  KEVELALGINSEYTKRTLMRLHPNIKVMRHPDHVSSTVYLWAHHEKLVIIDQSVAFVGGI
  DLAYGRWDDNEHRLTDVGSVKRVTSGPSLGSLPPAAMESMESLRLKDKNEPVQNLPIQKS
  IDDVDSKLKGIGKPRKFSKFSLYKQLHRHHLHDADSISSIDSTSSYFNHYRSHHNLIHGL
  KPHFKLFHPSSESEQGLTRPHADTGSIRSLQTGVGELHGETRFWHGKDYCNFVFKDWVQL
  DKPFADFIDRYSTPRMPWHDIASAVHGKAARDVARHFIQRWNFTKIMKSKYRSLSYPFLL
  PKSQTTAHELRYQVPGSVHANVQLLRSAADWSAGIKYHEESIHAAYVHVIENSRHYIYIE
  NQFFISCADDKVVFNKIGDAIAQRILKAHRENQKYRVYVVIPLLPGFEGDISTGGGNALQ
  AIMHFNYRTMCRGENSILGQLKAELGNQWINYISFCGLRTHAELEGNLVTELIYVHSKLL
  IADDNTVIIGSANINDRSMLGKRDSEMAVIVQDTETVPSVMDGKEYQAGRFARGLRLQCF
  RVVLGYLDDPSEDIQDPVSDKFFKEVWVSTAARNATIYDKVFRCLPNDEVHNLIQLRDFI
  NKPVLAKEDPIRAEEELKKIRGFLVQFPFYFLSEESLLPSVGTKEAIVPMEVWT

• Sequence length: 1074

Pathways

KEGG Pathway	Reactome Pathway
Glycerophospholipid metabolism	Synthesis of PA
Ether lipid metabolism	Role of phospholipids in phagocytosis
Metabolic pathways	Neutrophil degranulation
Ras signaling pathway
cAMP signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Endocytosis
Fc gamma R-mediated phagocytosis
Glutamatergic synapse
GnRH signaling pathway
Parathyroid hormone synthesis, secretion and action
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Pancreatic cancer
Choline metabolism in cancer

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiac valvular defect, developmental	Likely pathogenic; Pathogenic	rs202167212, rs1487673182, rs2473988650, rs374719323, rs760229620, rs769669104, rs778311238, rs1085307450, rs200206423, rs1719235551	RCV002267188 RCV003148191 RCV003154833 RCV003333515 RCV004586242 RCV000488889 RCV000488900 RCV000488913 RCV001280621 RCV001283773	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs760657350	RCV005908955	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (17)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CARDIAC VALVULAR DYSPLASIA 1	—	Disgenet, HPO Disgenet, HPO	27799408,33645542,37770978,39553471,39681445	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	15988127	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY STENOSIS	—	GWAS catalog	33766035	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER	—	GWAS catalog	38036781	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	31969693	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLD1-related congenital heart disease	—	ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLD1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PLD2 1 shared diseaseCardiomegaly 16 shared pathwaysGlycerophospholipid metabolism, Ether lipid metabolism, Ras signaling pathway, cAMP signaling pathway, Sphingolipid signaling pathway, Phospholipase D signaling pathway, Endocytosis, Fc gamma R-mediated phagocytosis, Glutamatergic synapse, GnRH signaling pathway, Parathyroid hormone synthesis, secretion and action, Chemical carcinogenesis - reactive oxygen species +4 more 1 shared evidence sourceCTD (Cardiomegaly) Related via 16 shared pathways including Glycerophospholipid metabolism, Ether lipid metabolism — evidence mostly CTD. ZNF800 2 shared diseasesCataract, Duodenal ulcer 2 shared evidence sourcesGWAS catalog (Cataract), GWAS catalog (Duodenal ulcer) Related via 2 shared diseases including Cataract, Duodenal ulcer — evidence mostly GWAS catalog. BAMBI 2 shared diseasesCardiomegaly, Cataract 2 shared evidence sourcesCTD (Cardiomegaly), GWAS catalog (Cataract) Related via 2 shared diseases including Cardiomegaly, Cataract — evidence mostly CTD. PKD1L1 2 shared diseasesCataract, Tetralogy of fallot 2 shared evidence sourcesGWAS catalog (Cataract), CTD (Tetralogy of fallot) Related via 2 shared diseases including Cataract, Tetralogy of fallot — evidence mostly GWAS catalog. HAND2 2 shared diseasesCardiomegaly, Tetralogy of fallot 2 shared evidence sourcesCTD (Cardiomegaly), CTD (Tetralogy of fallot) Related via 2 shared diseases including Cardiomegaly, Tetralogy of fallot — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PLD2	1	["Cardiomegaly"]	16	["Glycerophospholipid metabolism","Ether lipid metabolism","Ras signaling pathway","cAMP signaling pathway","Sphingolipid signaling pathway","Phospholipase D signaling pathway","Endocytosis","Fc gamma R-mediated phagocytosis","Glutamatergic synapse","GnRH signaling pathway","Parathyroid hormone synthesis, secretion and action","Chemical carcinogenesis - reactive oxygen species"]	1	["CTD (Cardiomegaly)"]
ZNF800	2	["Cataract","Duodenal ulcer"]	0	[]	2	["GWAS catalog (Cataract)","GWAS catalog (Duodenal ulcer)"]
BAMBI	2	["Cardiomegaly","Cataract"]	0	[]	2	["CTD (Cardiomegaly)","GWAS catalog (Cataract)"]
PKD1L1	2	["Cataract","Tetralogy of fallot"]	0	[]	2	["GWAS catalog (Cataract)","CTD (Tetralogy of fallot)"]
HAND2	2	["Cardiomegaly","Tetralogy of fallot"]	0	[]	2	["CTD (Cardiomegaly)","CTD (Tetralogy of fallot)"]

Diseases Linked via Similar Genes

Autism Linked via 2 of 5 related genesZNF800, PKD1L1 Congestive heart failure Linked via 2 of 5 related genesBAMBI, HAND2 Heart failure Linked via 2 of 5 related genesBAMBI, HAND2 Liver cirrhosis Linked via 2 of 5 related genesBAMBI, PKD1L1 Alzheimer disease Linked via 1 of 5 related genesPLD2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	2	["ZNF800","PKD1L1"]
Congestive heart failure	2	["BAMBI","HAND2"]
Heart failure	2	["BAMBI","HAND2"]
Liver cirrhosis	2	["BAMBI","PKD1L1"]
Alzheimer disease	1	["PLD2"]