Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57216
Gene name Gene Name - the full gene name approved by the HGNC.	VANGL planar cell polarity protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	VANGL2
Synonyms (NCBI Gene) Gene synonyms aliases	LPP1, LTAP, STB1, STBM, STBM1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q23.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607167	C>G,T	Risk-factor	Missense variant, coding sequence variant, genic downstream transcript variant
rs267607168	T>C	Risk-factor	Missense variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(262)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017700	hsa-miR-335-5p	Microarray	18185580
MIRT029478	hsa-miR-26b-5p	Sequencing	20371350
MIRT049626	hsa-miR-92a-3p	CLASH	23622248
MIRT710128	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT710127	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT710126	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT710125	hsa-miR-3173-5p	HITS-CLIP	19536157
MIRT710124	hsa-miR-6799-3p	HITS-CLIP	19536157
MIRT710123	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT710122	hsa-miR-1291	HITS-CLIP	19536157
MIRT710121	hsa-miR-6775-3p	HITS-CLIP	19536157
MIRT710120	hsa-miR-4313	HITS-CLIP	19536157
MIRT646070	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT646069	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT646068	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT646067	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646066	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT663120	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT646065	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT646064	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT646063	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT646062	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646061	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646060	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT646070	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT646069	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT646068	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT646067	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646066	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT646065	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT646064	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT646063	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT646062	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646061	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646060	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT060011	hsa-miR-1276	PAR-CLIP	20371350
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT060018	hsa-miR-451b	PAR-CLIP	20371350
MIRT544310	hsa-miR-5697	PAR-CLIP	20371350
MIRT060009	hsa-miR-1297	PAR-CLIP	20371350
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT060013	hsa-miR-4465	PAR-CLIP	20371350
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT060011	hsa-miR-1276	PAR-CLIP	20371350
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT060018	hsa-miR-451b	PAR-CLIP	20371350
MIRT544310	hsa-miR-5697	PAR-CLIP	20371350
MIRT060009	hsa-miR-1297	PAR-CLIP	20371350
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT060013	hsa-miR-4465	PAR-CLIP	20371350
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT060011	hsa-miR-1276	PAR-CLIP	21572407
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	21572407
MIRT060018	hsa-miR-451b	PAR-CLIP	21572407
MIRT544310	hsa-miR-5697	PAR-CLIP	21572407
MIRT060005	hsa-miR-342-5p	PAR-CLIP	21572407
MIRT060016	hsa-miR-4664-5p	PAR-CLIP	21572407
MIRT060009	hsa-miR-1297	PAR-CLIP	21572407
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT060013	hsa-miR-4465	PAR-CLIP	21572407
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT060011	hsa-miR-1276	PAR-CLIP	21572407
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	21572407
MIRT060018	hsa-miR-451b	PAR-CLIP	21572407
MIRT544310	hsa-miR-5697	PAR-CLIP	21572407
MIRT060005	hsa-miR-342-5p	PAR-CLIP	21572407
MIRT060016	hsa-miR-4664-5p	PAR-CLIP	21572407
MIRT060009	hsa-miR-1297	PAR-CLIP	21572407
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT060013	hsa-miR-4465	PAR-CLIP	21572407
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT710128	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT710127	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT710126	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT710125	hsa-miR-3173-5p	HITS-CLIP	19536157
MIRT710124	hsa-miR-6799-3p	HITS-CLIP	19536157
MIRT710123	hsa-miR-874-5p	HITS-CLIP	19536157
MIRT710122	hsa-miR-1291	HITS-CLIP	19536157
MIRT710121	hsa-miR-6775-3p	HITS-CLIP	19536157
MIRT710120	hsa-miR-4313	HITS-CLIP	19536157
MIRT646070	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT646069	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT646068	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT646067	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646066	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT663120	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT646065	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT646064	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT646063	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT646062	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646061	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646060	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT646070	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT646069	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT646068	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT646067	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT646066	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT646065	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT646064	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT646063	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT646062	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646061	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646060	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT060011	hsa-miR-1276	PAR-CLIP	20371350
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT060018	hsa-miR-451b	PAR-CLIP	20371350
MIRT544310	hsa-miR-5697	PAR-CLIP	20371350
MIRT060009	hsa-miR-1297	PAR-CLIP	20371350
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT060013	hsa-miR-4465	PAR-CLIP	20371350
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT060011	hsa-miR-1276	PAR-CLIP	20371350
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT060018	hsa-miR-451b	PAR-CLIP	20371350
MIRT544310	hsa-miR-5697	PAR-CLIP	20371350
MIRT060009	hsa-miR-1297	PAR-CLIP	20371350
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT060013	hsa-miR-4465	PAR-CLIP	20371350
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT060011	hsa-miR-1276	PAR-CLIP	21572407
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	21572407
MIRT060018	hsa-miR-451b	PAR-CLIP	21572407
MIRT544310	hsa-miR-5697	PAR-CLIP	21572407
MIRT060005	hsa-miR-342-5p	PAR-CLIP	21572407
MIRT060016	hsa-miR-4664-5p	PAR-CLIP	21572407
MIRT060009	hsa-miR-1297	PAR-CLIP	21572407
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT060013	hsa-miR-4465	PAR-CLIP	21572407
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT060011	hsa-miR-1276	PAR-CLIP	21572407
MIRT544311	hsa-miR-4760-3p	PAR-CLIP	21572407
MIRT060018	hsa-miR-451b	PAR-CLIP	21572407
MIRT544310	hsa-miR-5697	PAR-CLIP	21572407
MIRT060005	hsa-miR-342-5p	PAR-CLIP	21572407
MIRT060016	hsa-miR-4664-5p	PAR-CLIP	21572407
MIRT060009	hsa-miR-1297	PAR-CLIP	21572407
MIRT060004	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029478	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT060013	hsa-miR-4465	PAR-CLIP	21572407
MIRT544308	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT1482286	hsa-miR-1178	CLIP-seq
MIRT1482287	hsa-miR-1253	CLIP-seq
MIRT1482288	hsa-miR-1255a	CLIP-seq
MIRT1482289	hsa-miR-1255b	CLIP-seq
MIRT1482290	hsa-miR-140-3p	CLIP-seq
MIRT1482291	hsa-miR-188-5p	CLIP-seq
MIRT1482292	hsa-miR-1909	CLIP-seq
MIRT1482293	hsa-miR-1915	CLIP-seq
MIRT1482294	hsa-miR-22	CLIP-seq
MIRT1482295	hsa-miR-2682	CLIP-seq
MIRT1482296	hsa-miR-28-5p	CLIP-seq
MIRT1482297	hsa-miR-3139	CLIP-seq
MIRT1482298	hsa-miR-3150b-3p	CLIP-seq
MIRT1482299	hsa-miR-3157-3p	CLIP-seq
MIRT1482300	hsa-miR-3202	CLIP-seq
MIRT1482301	hsa-miR-3613-3p	CLIP-seq
MIRT1482302	hsa-miR-3614-5p	CLIP-seq
MIRT1482303	hsa-miR-362-5p	CLIP-seq
MIRT1482304	hsa-miR-3660	CLIP-seq
MIRT1482305	hsa-miR-3667-5p	CLIP-seq
MIRT1482306	hsa-miR-3714	CLIP-seq
MIRT1482307	hsa-miR-371b-5p	CLIP-seq
MIRT1482308	hsa-miR-4433	CLIP-seq
MIRT1482309	hsa-miR-4438	CLIP-seq
MIRT1482310	hsa-miR-4446-3p	CLIP-seq
MIRT1482311	hsa-miR-4475	CLIP-seq
MIRT1482312	hsa-miR-4492	CLIP-seq
MIRT1482313	hsa-miR-4498	CLIP-seq
MIRT1482314	hsa-miR-449c	CLIP-seq
MIRT1482315	hsa-miR-4505	CLIP-seq
MIRT1482316	hsa-miR-4513	CLIP-seq
MIRT1482317	hsa-miR-4526	CLIP-seq
MIRT1482318	hsa-miR-4533	CLIP-seq
MIRT1482319	hsa-miR-4640-5p	CLIP-seq
MIRT1482320	hsa-miR-4650-5p	CLIP-seq
MIRT1482321	hsa-miR-4685-5p	CLIP-seq
MIRT1482322	hsa-miR-4689	CLIP-seq
MIRT1482323	hsa-miR-4726-3p	CLIP-seq
MIRT1482324	hsa-miR-4726-5p	CLIP-seq
MIRT1482325	hsa-miR-4740-5p	CLIP-seq
MIRT1482326	hsa-miR-4749-3p	CLIP-seq
MIRT1482327	hsa-miR-4784	CLIP-seq
MIRT1482328	hsa-miR-485-3p	CLIP-seq
MIRT1482329	hsa-miR-500a	CLIP-seq
MIRT1482330	hsa-miR-500b	CLIP-seq
MIRT1482331	hsa-miR-502-5p	CLIP-seq
MIRT1482332	hsa-miR-5095	CLIP-seq
MIRT1482333	hsa-miR-545	CLIP-seq
MIRT1482334	hsa-miR-548an	CLIP-seq
MIRT1482335	hsa-miR-558	CLIP-seq
MIRT1482336	hsa-miR-645	CLIP-seq
MIRT1482337	hsa-miR-708	CLIP-seq
MIRT1482338	hsa-miR-762	CLIP-seq
MIRT1482339	hsa-miR-765	CLIP-seq
MIRT1482340	hsa-miR-877	CLIP-seq
MIRT1482341	hsa-miR-888	CLIP-seq
MIRT1482342	hsa-miR-890	CLIP-seq
MIRT2145163	hsa-miR-1225-5p	CLIP-seq
MIRT2145164	hsa-miR-216a	CLIP-seq
MIRT2145165	hsa-miR-3115	CLIP-seq
MIRT2145166	hsa-miR-3123	CLIP-seq
MIRT1482300	hsa-miR-3202	CLIP-seq
MIRT2145167	hsa-miR-3919	CLIP-seq
MIRT2145168	hsa-miR-4270	CLIP-seq
MIRT2145169	hsa-miR-4311	CLIP-seq
MIRT2145170	hsa-miR-4441	CLIP-seq
MIRT1482318	hsa-miR-4533	CLIP-seq
MIRT2145171	hsa-miR-4710	CLIP-seq
MIRT2145172	hsa-miR-4756-3p	CLIP-seq
MIRT2145173	hsa-miR-4768-3p	CLIP-seq
MIRT2365426	hsa-miR-1271	CLIP-seq
MIRT2365427	hsa-miR-1289	CLIP-seq
MIRT1482290	hsa-miR-140-3p	CLIP-seq
MIRT2365428	hsa-miR-146b-3p	CLIP-seq
MIRT2365429	hsa-miR-182	CLIP-seq
MIRT1482293	hsa-miR-1915	CLIP-seq
MIRT2365430	hsa-miR-214	CLIP-seq
MIRT2365431	hsa-miR-3619-5p	CLIP-seq
MIRT2365432	hsa-miR-3652	CLIP-seq
MIRT1482304	hsa-miR-3660	CLIP-seq
MIRT2145168	hsa-miR-4270	CLIP-seq
MIRT2365433	hsa-miR-4291	CLIP-seq
MIRT2365434	hsa-miR-4318	CLIP-seq
MIRT2365435	hsa-miR-4430	CLIP-seq
MIRT2145170	hsa-miR-4441	CLIP-seq
MIRT2365436	hsa-miR-4474-3p	CLIP-seq
MIRT1482315	hsa-miR-4505	CLIP-seq
MIRT1482317	hsa-miR-4526	CLIP-seq
MIRT1482323	hsa-miR-4726-3p	CLIP-seq
MIRT1482325	hsa-miR-4740-5p	CLIP-seq
MIRT2365437	hsa-miR-760	CLIP-seq
MIRT2365438	hsa-miR-761	CLIP-seq
MIRT1482339	hsa-miR-765	CLIP-seq
MIRT2365439	hsa-miR-874	CLIP-seq
MIRT2365440	hsa-miR-922	CLIP-seq
MIRT2365441	hsa-miR-96	CLIP-seq
MIRT2466327	hsa-miR-1207-5p	CLIP-seq
MIRT2466328	hsa-miR-124	CLIP-seq
MIRT1482288	hsa-miR-1255a	CLIP-seq
MIRT1482289	hsa-miR-1255b	CLIP-seq
MIRT1482292	hsa-miR-1909	CLIP-seq
MIRT1482294	hsa-miR-22	CLIP-seq
MIRT1482296	hsa-miR-28-5p	CLIP-seq
MIRT1482297	hsa-miR-3139	CLIP-seq
MIRT1482298	hsa-miR-3150b-3p	CLIP-seq
MIRT1482306	hsa-miR-3714	CLIP-seq
MIRT2466329	hsa-miR-3910	CLIP-seq
MIRT1482322	hsa-miR-4689	CLIP-seq
MIRT2466330	hsa-miR-4763-3p	CLIP-seq
MIRT1482327	hsa-miR-4784	CLIP-seq
MIRT2466331	hsa-miR-506	CLIP-seq
MIRT1482335	hsa-miR-558	CLIP-seq
MIRT1482337	hsa-miR-708	CLIP-seq
MIRT1482339	hsa-miR-765	CLIP-seq
MIRT2466332	hsa-miR-940	CLIP-seq

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001736	Process	Establishment of planar polarity	IBA	21873635
GO:0001736	Process	Establishment of planar polarity	ISS
GO:0001843	Process	Neural tube closure	ISS
GO:0001947	Process	Heart looping	ISS
GO:0005515	Function	Protein binding	IPI	22610794, 28330616, 30126976
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016328	Component	Lateral plasma membrane	ISS
GO:0035787	Process	Cell migration involved in kidney development	ISS
GO:0045176	Process	Apical protein localization	ISS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IBA	21873635
GO:1905515	Process	Non-motile cilium assembly	ISS

MIM	HGNC	e!Ensembl
600533	15511	ENSG00000162738

Protein

UniProt ID

Q9ULK5

Protein name

Vang-like protein 2 (Loop-tail protein 1 homolog) (Strabismus 1) (Van Gogh-like protein 2)

Protein function

Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles

PDB

6XA6 , 6XA7 , 6XA8 , 7R2M , 7R2T , 9JK7 , 9JKA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06638	Strabismus	20 → 521	Strabismus protein	Family

Sequence

MDTESQYSGYSYKSGHSRSSRKHRDRRDRHRSKSRDGGRGDKSVTIQAPGEPLLDNESTR
GDERDDNWGETTTVVTGTSEHSISHDDLTRIAKDMEDSVPLDCSRHLGVAAGATLALLSF
LTPLAFLLLPPLLWREELEPCGTACEGLFISVAFKLLILLLGSWALFFRRPKASLPRVFV
LRALLMVLVFLLVVSYWLFYGVRILDARERSYQGVVQFAVSLVDALLFVHYLAVVLLELR
QLQPQFTLKVVRSTDGASRFYNVGHLSIQRVAVWILEKYYHDFPVYNPALLNLPKSVLAK
KVSGFKVYSLGEENSTNNSTGQSRAVIAAAARRRDNSHNEYYYEEAEHERRVRKRRARLV
VAVEEAFTHIKRLQEEEQKNPREVMDPREAAQAIFASMARAMQKYLRTTKQQPYHTMESI
LQHLEFCITHDMTPKAFLERYLAAGPTIQYHKERWLAKQWTLVSEEPVTNGLKDGIVFLL
KRQDFSLVVSTKKVPFFKLSEEFVDPKSHKFVMRLQSETSV

Sequence length

521

Interactions

View interactions

	KEGG
	Wnt signaling pathway

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Anencephaly	Anencephaly, Iniencephaly, Exencephaly	rs773607884	20558380, 2373757
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Neural tube defect	Neural Tube Defects	rs121434297, rs137853061, rs137853062, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs781461462, rs1114167354 View all (26 more)	2373757

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Neural Tube Defect	neural tube defects, susceptibility to	GenCC
Multiple Sclerosis	Multiple Sclerosis	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
Bohring syndrome	Associate	37053013, 39614348
Capillary Malformation Arteriovenous Malformation	Associate	20738329
Colorectal Neoplasms	Associate	23579212
Glioma	Stimulate	28481871
Lung Neoplasms	Associate	32107851
Nasal Polyps	Associate	38232516
Neoplasms	Associate	23579212
Neural Tube Defects	Associate	20738329, 33684218
Osteoarthritis	Inhibit	29806631
Pneumonia Pneumocystis	Associate	29573971
Polycystic Kidney Autosomal Recessive	Associate	30414501
Spinal Dysraphism	Associate	20738329

VANGL2 (VANGL planar cell polarity protein 2)