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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23500
Gene name	Dishevelled associated activator of morphogenesis 2
Gene symbol	DAAM2
Synonyms (NCBI Gene)	NPHS24dJ90A20A.1
Chromosome	6
Chromosome location	6p21.2

258

Show/Hide all (258)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031230	hsa-miR-19b-3p	Sequencing	20371350
MIRT031355	hsa-miR-18a-5p	Sequencing	20371350
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT640334	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT640333	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT640332	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT640331	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT640330	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT640329	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT640328	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT640327	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT640326	hsa-miR-4439	HITS-CLIP	23824327
MIRT640325	hsa-miR-943	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT640334	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT640333	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT640332	hsa-miR-6752-3p	HITS-CLIP	23824327
MIRT640331	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT640330	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT640329	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT640328	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT640327	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT640326	hsa-miR-4439	HITS-CLIP	23824327
MIRT640325	hsa-miR-943	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT609347	hsa-miR-8485	HITS-CLIP	23824327
MIRT609346	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT609345	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT609344	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT609343	hsa-miR-7108-3p	HITS-CLIP	23824327
MIRT609342	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT922481	hsa-miR-1207-3p	CLIP-seq
MIRT922482	hsa-miR-1224-3p	CLIP-seq
MIRT922483	hsa-miR-1260	CLIP-seq
MIRT922484	hsa-miR-1260b	CLIP-seq
MIRT922485	hsa-miR-1266	CLIP-seq
MIRT922486	hsa-miR-1273f	CLIP-seq
MIRT922487	hsa-miR-1280	CLIP-seq
MIRT922488	hsa-miR-1299	CLIP-seq
MIRT922489	hsa-miR-138	CLIP-seq
MIRT922490	hsa-miR-143	CLIP-seq
MIRT922491	hsa-miR-146a	CLIP-seq
MIRT922492	hsa-miR-146b-5p	CLIP-seq
MIRT922493	hsa-miR-1470	CLIP-seq
MIRT922494	hsa-miR-1827	CLIP-seq
MIRT922495	hsa-miR-197	CLIP-seq
MIRT922496	hsa-miR-198	CLIP-seq
MIRT922497	hsa-miR-2355-5p	CLIP-seq
MIRT922498	hsa-miR-3144-5p	CLIP-seq
MIRT922499	hsa-miR-3191	CLIP-seq
MIRT922500	hsa-miR-3202	CLIP-seq
MIRT922501	hsa-miR-3622a-3p	CLIP-seq
MIRT922502	hsa-miR-3622b-3p	CLIP-seq
MIRT922503	hsa-miR-3664-3p	CLIP-seq
MIRT922504	hsa-miR-3914	CLIP-seq
MIRT922505	hsa-miR-3934	CLIP-seq
MIRT922506	hsa-miR-4254	CLIP-seq
MIRT922507	hsa-miR-4299	CLIP-seq
MIRT922508	hsa-miR-4323	CLIP-seq
MIRT922509	hsa-miR-4434	CLIP-seq
MIRT922510	hsa-miR-4435	CLIP-seq
MIRT922511	hsa-miR-4516	CLIP-seq
MIRT922512	hsa-miR-4518	CLIP-seq
MIRT922513	hsa-miR-4531	CLIP-seq
MIRT922514	hsa-miR-4533	CLIP-seq
MIRT922515	hsa-miR-4652-5p	CLIP-seq
MIRT922516	hsa-miR-4667-3p	CLIP-seq
MIRT922517	hsa-miR-4690-3p	CLIP-seq
MIRT922518	hsa-miR-4691-5p	CLIP-seq
MIRT922519	hsa-miR-4694-3p	CLIP-seq
MIRT922520	hsa-miR-4698	CLIP-seq
MIRT922521	hsa-miR-4708-5p	CLIP-seq
MIRT922522	hsa-miR-4710	CLIP-seq
MIRT922523	hsa-miR-4768-3p	CLIP-seq
MIRT922524	hsa-miR-4770	CLIP-seq
MIRT922525	hsa-miR-4773	CLIP-seq
MIRT922526	hsa-miR-4777-5p	CLIP-seq
MIRT922527	hsa-miR-4792	CLIP-seq
MIRT922528	hsa-miR-512-5p	CLIP-seq
MIRT922529	hsa-miR-513b	CLIP-seq
MIRT922530	hsa-miR-532-3p	CLIP-seq
MIRT922531	hsa-miR-589	CLIP-seq
MIRT922532	hsa-miR-619	CLIP-seq
MIRT922533	hsa-miR-665	CLIP-seq
MIRT922534	hsa-miR-873	CLIP-seq
MIRT922535	hsa-miR-875-3p	CLIP-seq
MIRT922536	hsa-miR-2682	CLIP-seq
MIRT922537	hsa-miR-298	CLIP-seq
MIRT922538	hsa-miR-3714	CLIP-seq
MIRT922539	hsa-miR-449c	CLIP-seq
MIRT922540	hsa-miR-4662a-3p	CLIP-seq
MIRT922541	hsa-miR-488	CLIP-seq
MIRT922542	hsa-miR-548an	CLIP-seq
MIRT922543	hsa-miR-940	CLIP-seq
MIRT1547843	hsa-miR-1252	CLIP-seq
MIRT1922675	hsa-miR-3156-3p	CLIP-seq
MIRT922501	hsa-miR-3622a-3p	CLIP-seq
MIRT922502	hsa-miR-3622b-3p	CLIP-seq
MIRT922506	hsa-miR-4254	CLIP-seq
MIRT1922676	hsa-miR-4279	CLIP-seq
MIRT1922677	hsa-miR-4301	CLIP-seq
MIRT922509	hsa-miR-4434	CLIP-seq
MIRT922511	hsa-miR-4516	CLIP-seq
MIRT922513	hsa-miR-4531	CLIP-seq
MIRT922530	hsa-miR-532-3p	CLIP-seq
MIRT922532	hsa-miR-619	CLIP-seq
MIRT922518	hsa-miR-4691-5p	CLIP-seq
MIRT2208901	hsa-miR-3200-5p	CLIP-seq
MIRT2386683	hsa-miR-3616-3p	CLIP-seq
MIRT2386684	hsa-miR-4638-3p	CLIP-seq
MIRT2447979	hsa-miR-324-5p	CLIP-seq
MIRT2447980	hsa-miR-3529	CLIP-seq
MIRT2447981	hsa-miR-379	CLIP-seq
MIRT2447982	hsa-miR-3910	CLIP-seq
MIRT2447983	hsa-miR-4292	CLIP-seq
MIRT2447984	hsa-miR-4308	CLIP-seq
MIRT2447985	hsa-miR-4451	CLIP-seq
MIRT2447986	hsa-miR-4493	CLIP-seq
MIRT2447987	hsa-miR-4650-3p	CLIP-seq
MIRT2512676	hsa-miR-1233	CLIP-seq
MIRT2512677	hsa-miR-125a-5p	CLIP-seq
MIRT2512678	hsa-miR-125b	CLIP-seq
MIRT2512679	hsa-miR-1913	CLIP-seq
MIRT2512680	hsa-miR-3184	CLIP-seq
MIRT2512681	hsa-miR-324-3p	CLIP-seq
MIRT2512682	hsa-miR-331-3p	CLIP-seq
MIRT2512683	hsa-miR-423-5p	CLIP-seq
MIRT2512684	hsa-miR-4290	CLIP-seq
MIRT2512685	hsa-miR-4319	CLIP-seq
MIRT2512686	hsa-miR-4687-5p	CLIP-seq
MIRT2512687	hsa-miR-4749-3p	CLIP-seq
MIRT2512688	hsa-miR-4752	CLIP-seq
MIRT2512689	hsa-miR-544b	CLIP-seq
MIRT2512690	hsa-miR-563	CLIP-seq
MIRT2512691	hsa-miR-670	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	33232676
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0021516	Process	Dorsal spinal cord development	IEA
GO:0021516	Process	Dorsal spinal cord development	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	24223803
GO:0030833	Process	Regulation of actin filament polymerization	IDA	33232676
GO:0031267	Function	Small GTPase binding	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	24223803
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IBA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	ISS
GO:0051489	Process	Regulation of filopodium assembly	IDA	33232676
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	ISS
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IBA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	ISS
GO:0090521	Process	Podocyte cell migration	IDA	33232676
GO:2000050	Process	Regulation of non-canonical Wnt signaling pathway	IBA
GO:2000050	Process	Regulation of non-canonical Wnt signaling pathway	IEA
GO:2000050	Process	Regulation of non-canonical Wnt signaling pathway	ISS

MIM	HGNC	e!Ensembl
606627	18143	ENSG00000146122

Q86T65

Protein name

Disheveled-associated activator of morphogenesis 2

Protein function

Key regulator of the Wnt signaling pathway, which is required for various processes during development, such as dorsal patterning, determination of left/right symmetry or myelination in the central nervous system. Acts downstream of Wnt ligands

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06371	Drf_GBD	40 → 228	Diaphanous GTPase-binding Domain	Family
PF06367	Drf_FH3	231 → 435	Diaphanous FH3 Domain	Family
PF02181	FH2	595 → 969	Formin Homology 2 Domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in most tissues examined. Expressed in kidney glomeruli (PubMed:33232676). {ECO:0000269|PubMed:33232676, ECO:0000269|PubMed:9205841}.

Sequence

MAPRKRSHHGLGFLCCFGGSDIPEINLRDNHPLQFMEFSSPIPNAEELNIRFAELVDELD
LTDKNREAMFALPPEKKWQIYCSKKKEQEDPNKLATSWPDYYIDRINSMAAMQSLYAFDE
EETEMRNQVVEDLKTALRTQPMRFVTRFIELEGLTCLLNFLRSMDHATCESRIHTSLIGC
IKALMNNSQGRAHVLAQPEAISTIAQSLRTENSKTKVAVLEILGAVCLVPGGHKKVLQAM
LHYQVYAAERTRFQTLLNELDRSLGRYRDEVNLKTAIMSFINAVLNAGAGEDNLEFRLHL
RYEFLMLGIQPVIDKLRQHENAILDKHLDFFEMVRNEDDLELARRFDMVHIDTKSASQMF
ELIHKKLKYTEAYPCLLSVLHHCLQMPYKRNGGYFQQWQLLDRILQQIVLQDERGVDPDL
APLENFNVKNIVNMLINENEVKQWRDQAEKFRKEHMELVSRLERKERECETKTLEKEEMM
RTLNKMKDKLARESQELRQARGQVAELVAQLSELSTGPVSSPPPPGGPLTLSSSMTTNDL
PPPPPPLPFACCPPPPPPPLPPGGPPTPPGAPPCLGMGLPLPQDPYPSSDVPLRKKRVPQ
PSHPLKSFNWVKLNEERVPGTVWNEIDDMQVFRILDLEDFEKMFSAYQRHQKELGSTEDI
YLASRKVKELSVIDGRRAQNCIILLSKLKLSNEEIRQAILKMDEQEDLAKDMLEQLLKFI
PEKSDIDLLEEHKHEIERMARADRFLYEMSRIDHYQQRLQALFFKKKFQERLAEAKPKVE
AILLASRELVRSKRLRQMLEVILAIGNFMNKGQRGGAYGFRVASLNKIADTKSSIDRNIS
LLHYLIMILEKHFPDILNMPSELQHLPEAAKVNLAELEKEVGNLRRGLRAVEVELEYQRR
QVREPSDKFVPVMSDFITVSSFSFSELEDQLNEARDKFAKALMHFGEHDSKMQPDEFFGI
FDTFLQAFSEARQDLEAMRRRKEEEERRARMEAMLKEQRERERWQRQRKVLAAGSSLEEG
GEFDDLVSALRSGEVFDKDLCKLKRSRKRSGSQALEVTRERAINRLNY

Sequence length

1068

Interactions

View interactions

	KEGG
	Wnt signaling pathway Cytoskeleton in muscle cells

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
Nephrotic syndrome, type 24	Pathogenic	rs1391253919, rs200668867, rs1764951663	RCV001363214 RCV001363217 RCV001363218	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
AORTIC ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED MOLYBDOFLAVOPROTEIN ENZYME DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DAAM2-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic multidrug-resistant nephrotic syndrome	Uncertain significance	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROSIS, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	32772041	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	30414501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	36720443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29053101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32772041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29981437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	40179422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	27245242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19562778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	26293489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	26490183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29053101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29053101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34758154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33692394	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29981437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29981437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29053101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	35052486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	16996564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	30598549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	36720443	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	30598549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	30598549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36177918	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	16273260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	30598549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic episodes	Psychosis	BEFREE	19358997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19562778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19358997		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19358997		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DAAM2 (dishevelled associated activator of morphogenesis 2)