INF2 (inverted formin 2)

Gene

• Entrez ID: 64423
• Gene name: Inverted formin 2
• Gene symbol: INF2
• Synonyms (NCBI Gene): C14orf151, C14orf173, CMTDIE, FSGS5, pp9484
• Chromosome: 14
• Chromosome location: 14q32.33
• Summary: This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201715539	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs267606877	T>C	Pathogenic	Coding sequence variant, missense variant
rs267606878	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606879	G>A	Pathogenic	Coding sequence variant, missense variant
rs267606880	T>C	Pathogenic	Coding sequence variant, missense variant
rs267607183	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907034	T>C	Pathogenic	Coding sequence variant, missense variant
rs387907035	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs387907036	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs387907037	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387907038	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs530391015	G>A,C,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs539256832	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs746964937	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs912928648	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1317776692	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555373363	T>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555373368	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555373599	GCCCTGGAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1566777417	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1566777560	G>A	Pathogenic	Missense variant, coding sequence variant
rs1566778512	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1566778651	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1566778676	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1595163730	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595166085	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022208	hsa-miR-124-3p	Microarray	18668037
MIRT031476	hsa-miR-16-5p	Proteomics	18668040
MIRT721771	hsa-miR-4512	HITS-CLIP	19536157
MIRT721770	hsa-miR-3918	HITS-CLIP	19536157
MIRT721769	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT721768	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT721767	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT721766	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT721765	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721764	hsa-miR-6861-3p	HITS-CLIP	19536157
MIRT721763	hsa-miR-492	HITS-CLIP	19536157
MIRT721762	hsa-miR-659-5p	HITS-CLIP	19536157
MIRT721761	hsa-miR-2861	HITS-CLIP	19536157
MIRT721760	hsa-miR-8071	HITS-CLIP	19536157
MIRT721759	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT721758	hsa-miR-5701	HITS-CLIP	19536157
MIRT721757	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT721756	hsa-miR-4535	HITS-CLIP	19536157
MIRT721755	hsa-miR-4433b-5p	HITS-CLIP	19536157
MIRT721754	hsa-miR-4646-3p	HITS-CLIP	19536157
MIRT721771	hsa-miR-4512	HITS-CLIP	19536157
MIRT721770	hsa-miR-3918	HITS-CLIP	19536157
MIRT721769	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT721768	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT721767	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT721766	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT721765	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721764	hsa-miR-6861-3p	HITS-CLIP	19536157
MIRT721763	hsa-miR-492	HITS-CLIP	19536157
MIRT721762	hsa-miR-659-5p	HITS-CLIP	19536157
MIRT721761	hsa-miR-2861	HITS-CLIP	19536157
MIRT721760	hsa-miR-8071	HITS-CLIP	19536157
MIRT721759	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT721758	hsa-miR-5701	HITS-CLIP	19536157
MIRT721757	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT721756	hsa-miR-4535	HITS-CLIP	19536157
MIRT721755	hsa-miR-4433b-5p	HITS-CLIP	19536157
MIRT721754	hsa-miR-4646-3p	HITS-CLIP	19536157
MIRT1066214	hsa-miR-1207-5p	CLIP-seq
MIRT1066215	hsa-miR-4650-5p	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT1066217	hsa-miR-4736	CLIP-seq
MIRT1066218	hsa-miR-4763-3p	CLIP-seq
MIRT1066219	hsa-miR-548q	CLIP-seq
MIRT1066220	hsa-miR-1286	CLIP-seq
MIRT1066221	hsa-miR-139-5p	CLIP-seq
MIRT1066222	hsa-miR-219-5p	CLIP-seq
MIRT1066223	hsa-miR-3150b-3p	CLIP-seq
MIRT1066224	hsa-miR-4689	CLIP-seq
MIRT1066225	hsa-miR-4760-5p	CLIP-seq
MIRT1066226	hsa-miR-4782-3p	CLIP-seq
MIRT1066227	hsa-miR-4784	CLIP-seq
MIRT1066228	hsa-miR-548v	CLIP-seq
MIRT1066220	hsa-miR-1286	CLIP-seq
MIRT1066221	hsa-miR-139-5p	CLIP-seq
MIRT1066228	hsa-miR-548v	CLIP-seq
MIRT2015830	hsa-miR-1205	CLIP-seq
MIRT2015831	hsa-miR-1207-3p	CLIP-seq
MIRT1066214	hsa-miR-1207-5p	CLIP-seq
MIRT2015832	hsa-miR-124	CLIP-seq
MIRT2015833	hsa-miR-1267	CLIP-seq
MIRT2015834	hsa-miR-1291	CLIP-seq
MIRT2015835	hsa-miR-1909	CLIP-seq
MIRT2015836	hsa-miR-2467-3p	CLIP-seq
MIRT2015837	hsa-miR-296-5p	CLIP-seq
MIRT2015838	hsa-miR-3127-5p	CLIP-seq
MIRT2015839	hsa-miR-3145-5p	CLIP-seq
MIRT2015840	hsa-miR-3192	CLIP-seq
MIRT2015841	hsa-miR-328	CLIP-seq
MIRT2015842	hsa-miR-34a	CLIP-seq
MIRT2015843	hsa-miR-34c-5p	CLIP-seq
MIRT2015844	hsa-miR-3622a-5p	CLIP-seq
MIRT2015845	hsa-miR-3652	CLIP-seq
MIRT2015846	hsa-miR-3689a-3p	CLIP-seq
MIRT2015847	hsa-miR-3689c	CLIP-seq
MIRT2015848	hsa-miR-3714	CLIP-seq
MIRT2015849	hsa-miR-3910	CLIP-seq
MIRT2015850	hsa-miR-3926	CLIP-seq
MIRT2015851	hsa-miR-4286	CLIP-seq
MIRT2015852	hsa-miR-4430	CLIP-seq
MIRT2015853	hsa-miR-4436b-3p	CLIP-seq
MIRT2015854	hsa-miR-4455	CLIP-seq
MIRT2015855	hsa-miR-4459	CLIP-seq
MIRT2015856	hsa-miR-4480	CLIP-seq
MIRT2015857	hsa-miR-4492	CLIP-seq
MIRT2015858	hsa-miR-4498	CLIP-seq
MIRT2015859	hsa-miR-449a	CLIP-seq
MIRT2015860	hsa-miR-449b	CLIP-seq
MIRT2015861	hsa-miR-4505	CLIP-seq
MIRT2015862	hsa-miR-4638-3p	CLIP-seq
MIRT2015863	hsa-miR-4640-5p	CLIP-seq
MIRT2015864	hsa-miR-4652-3p	CLIP-seq
MIRT2015865	hsa-miR-4691-3p	CLIP-seq
MIRT2015866	hsa-miR-4707-5p	CLIP-seq
MIRT2015867	hsa-miR-4726-5p	CLIP-seq
MIRT2015868	hsa-miR-4728-5p	CLIP-seq
MIRT1066217	hsa-miR-4736	CLIP-seq
MIRT1066218	hsa-miR-4763-3p	CLIP-seq
MIRT2015869	hsa-miR-4779	CLIP-seq
MIRT2015870	hsa-miR-506	CLIP-seq
MIRT2015871	hsa-miR-545	CLIP-seq
MIRT2015872	hsa-miR-548an	CLIP-seq
MIRT1066219	hsa-miR-548q	CLIP-seq
MIRT2015873	hsa-miR-548s	CLIP-seq
MIRT2015874	hsa-miR-550a	CLIP-seq
MIRT2015875	hsa-miR-555	CLIP-seq
MIRT2015876	hsa-miR-564	CLIP-seq
MIRT2015877	hsa-miR-659	CLIP-seq
MIRT2015878	hsa-miR-665	CLIP-seq
MIRT2015879	hsa-miR-762	CLIP-seq
MIRT2015880	hsa-miR-885-3p	CLIP-seq
MIRT2248323	hsa-miR-1271	CLIP-seq
MIRT2248324	hsa-miR-141	CLIP-seq
MIRT2248325	hsa-miR-182	CLIP-seq
MIRT2248326	hsa-miR-200a	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2248330	hsa-miR-4267	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT2248332	hsa-miR-4670-5p	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2248334	hsa-miR-562	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2248336	hsa-miR-766	CLIP-seq
MIRT2248337	hsa-miR-96	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq
MIRT2248327	hsa-miR-2113	CLIP-seq
MIRT2248328	hsa-miR-3190	CLIP-seq
MIRT2248329	hsa-miR-3199	CLIP-seq
MIRT2248331	hsa-miR-4515	CLIP-seq
MIRT1066216	hsa-miR-4733-3p	CLIP-seq
MIRT2248333	hsa-miR-4752	CLIP-seq
MIRT2248335	hsa-miR-7	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2551903	hsa-miR-3176	CLIP-seq
MIRT2551904	hsa-miR-3189-3p	CLIP-seq
MIRT2015846	hsa-miR-3689a-3p	CLIP-seq
MIRT2015847	hsa-miR-3689c	CLIP-seq
MIRT2551905	hsa-miR-3922-3p	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2248330	hsa-miR-4267	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2551906	hsa-miR-4300	CLIP-seq
MIRT2015855	hsa-miR-4459	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT2551907	hsa-miR-4716-3p	CLIP-seq
MIRT2551908	hsa-miR-4722-5p	CLIP-seq
MIRT2551909	hsa-miR-4723-5p	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2015869	hsa-miR-4779	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2248336	hsa-miR-766	CLIP-seq
MIRT2551910	hsa-miR-920	CLIP-seq
MIRT2551911	hsa-miR-939	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq
MIRT2451827	hsa-miR-1301	CLIP-seq
MIRT2451828	hsa-miR-3944-5p	CLIP-seq
MIRT2451829	hsa-miR-4269	CLIP-seq
MIRT2451830	hsa-miR-4514	CLIP-seq
MIRT2451831	hsa-miR-4660	CLIP-seq
MIRT2451832	hsa-miR-4692	CLIP-seq
MIRT2451833	hsa-miR-4742-5p	CLIP-seq
MIRT2451834	hsa-miR-5047	CLIP-seq
MIRT2451835	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	33232676
GO:0005737	Component	Cytoplasm	IEA
GO:0005884	Component	Actin filament	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030041	Process	Actin filament polymerization	IBA
GO:0031267	Function	Small GTPase binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	20023659
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0090140	Process	Regulation of mitochondrial fission	IMP	23349293

Other IDs

• MIM: 610982
• HGNC: 23791
• e!Ensembl: ENSG00000203485

Protein

• UniProt ID: Q27J81
• Protein name: Inverted formin-2 (HBEBP2-binding protein C)
• Protein function: Severs actin filaments and accelerates their polymerization and depolymerization.
• PDB: 8RV2, 9AZ4, 9AZP, 9AZQ, 9B03, 9B0K, 9FJN, 9FJW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06371	Drf_GBD	5 → 152	Diaphanous GTPase-binding Domain	Family
  PF06367	Drf_FH3	156 → 341	Diaphanous FH3 Domain	Family
  PF02181	FH2	554 → 921	Formin Homology 2 Domain	Family
  PF02205	WH2	974 → 991	WH2 motif	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells. {ECO:0000269|PubMed:20023659}.
• Sequence:

  MSVKEGAQRKWAALKEKLGPQDSDPTEANLESADPELCIRLLQMPSVVNYSGLRKRLEGS
  DGGWMVQFLEQSGLDLLLEALARLSGRGVARISDALLQLTCVSCVRAVMNSRQGIEYILS
  NQGYVRQLSQALDTSNVMVKKQVFELLAALCIYSPEGHVLTLDALDHYKTVCSQQYRFSI
  VMNELSGSDNVPYVVTLLSVINAVILGPEDLRARTQLRNEFIGLQLLDVLARLRDLEDAD
  LLIQLEAFEEAKAEDEEELLRVSGGVDMSSHQEVFASLFHKVSCSPVSAQLLSVLQGLLH
  LEPTLRSSQLLWEALESLVNRAVLLASDAQECTLEEVVERLLSVKGRPRPSPLVKAHKSV
  QANLDQSQRGSSPQNTTTPKPSVEGQQPAAAAACEPVDHAQSESILKVSQPRALEQQAST
  PPPPPPPPLLPGSSAEPPPPPPPPPLPSVGAKALPTAPPPPPLPGLGAMAPPAPPLPPPL
  PGSCEFLPPPPPPLPGLGCPPPPPPLLPGMGWGPPPPPPPLLPCTCSPPVAGGMEEVIVA
  QVDHGLGSAWVPSHRRVNPPTLRMKKLNWQKLPSNVAREHNSMWASLSSPDAEAVEPDFS
  SIERLFSFPAAKPKEPTMVAPRARKEPKEITFLDAKKSLNLNIFLKQFKCSNEEVAAMIR
  AGDTTKFDVEVLKQLLKLLPEKHEIENLRAFTEERAKLASADHFYLLLLAIPCYQLRIEC
  MLLCEGAAAVLDMVRPKAQLVLAACESLLTSRQLPIFCQLILRIGNFLNYGSHTGDADGF
  KISTLLKLTETKSQQNRVTLLHHVLEEAEKSHPDLLQLPRDLEQPSQAAGINLEIIRSEA
  SSNLKKLLETERKVSASVAEVQEQYTERLQASISAFRALDELFEAIEQKQRELADYLCED
  AQQLSLEDTFSTMKAFRDLFLRALKENKDRKEQAAKAERRKQQLAEEEARRPRGEDGKPV
  RKGPGKQEEVCVIDALLADIRKGFQLRKTARGRGDTDGGSKAASMDPPRATEPVATSNPA
  GDPVGSTRCPASEPGLDATTASESRGWDLVDAVTPGPQPTLEQLEEGGPRPLERRSSWYV
  DASDVLTTEDPQCPQPLEGAWPVTLGDAQALKPLKFSSNQPPAAGSSRQDAKDPTSLLGV
  LQAEADSTSEGLEDAVHSRGARPPAAGPGGDEDEDEEDTAPESALDTSLDKSFSEDAVTD
  SSGSGTLPRARGRASKGTGKRRKKRPSRSQEEVPPDSDDNKTKKLCVIQ

• Sequence length: 1249

Pathways

KEGG:

Cytoskeleton in muscle cells

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
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs530391015, rs1566778676, rs912928648, rs1595163736, rs1595163820, rs1595163851, rs1595164091, rs387907038	RCV000790334 RCV000790332 RCV000790333 RCV000789982 RCV000789992 RCV000789989 RCV000789987 RCV000789986 RCV000789988	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease dominant intermediate E	Likely pathogenic; Pathogenic	rs2140670271, rs2140647298, rs2140647207, rs267607183, rs267606878, rs267606879, rs2140648522, rs918089359, rs2504232979, rs387907035, rs387907036, rs387907037, rs387907038, rs1555373261, rs1555373363, rs1555373599, rs530391015, rs1566778651, rs1566777560, rs1566778676, rs912928648, rs1595163736, rs1595163820, rs1595163851, rs1595164091, rs200247054	RCV001536106 RCV005005955 RCV002024011 RCV001239762 RCV001380436 RCV001380435 RCV005008500 RCV002815208 RCV003318517 RCV000023850 RCV000023851 RCV000023852 RCV000023853 RCV000534855 RCV000542048 RCV001378572 RCV000543208 RCV001860480 RCV005010675 RCV002493369 RCV001535996 RCV000755018 RCV001387301 RCV001224751 RCV005870873 RCV001201657 RCV001380433 RCV001380434 RCV001043794	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal segmental glomerulosclerosis	Pathogenic; Likely pathogenic	rs2140648160, rs530391015	RCV001849642 RCV000626959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis 5	Likely pathogenic; Pathogenic	rs2140670271, rs2140647298, rs2140639518, rs2140647207, rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs2140648522, rs918089359, rs2504243379, rs2504233229, rs912928648, rs1889493279, rs387907036, rs387907037, rs1555373261, rs1555373363, rs1555373599, rs530391015, rs1566778651, rs1566777560, rs1566778676, rs1595163736, rs1595163851, rs1595164091, rs387907038, rs1595166085, rs1595163730, rs1317776692, rs200247054, rs866348422	RCV001536106 RCV001542484 RCV001849669 RCV002024011 RCV000001105 RCV000001106 RCV000001107 RCV000001108 RCV000001109 RCV002267598 RCV002815208 RCV003314416 RCV003991236 RCV003991340 RCV004555285 RCV001228020 RCV001378421 RCV000534855 RCV000542048 RCV001378572 RCV000543208 RCV001860480 RCV000735668 RCV000735730 RCV000735726 RCV000786896 RCV001224751 RCV001201657 RCV001380433 RCV001380434 RCV000995568 RCV001027720 RCV001029795 RCV001043794 RCV001261441	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertensive disorder	Likely pathogenic; Pathogenic	rs530391015	RCV000626959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
INF2-related disorder	Pathogenic; Likely pathogenic	rs267606877, rs2504247119, rs1595166085	RCV003934790 RCV003897097 RCV004731076	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney disorder	Likely pathogenic; Pathogenic	rs267607183, rs267606879, rs2504241662	RCV002293970 RCV002293971 RCV002294667	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic	rs2140648131	RCV001849690	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteinuria	Likely pathogenic; Pathogenic	rs530391015	RCV000626959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal insufficiency	Likely pathogenic; Pathogenic	rs530391015	RCV000626959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosteroids response	drug response; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glomerulopathy with fibronectin deposits 2	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2,8-Dihydroxyadenine Urolithiasis	2,8-Dihydroxyadenine Urolithiasis	BEFREE	24961278		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19603421		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	26951353		★☆☆☆☆ Found in Text Mining only
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	22187985, 22879592, 22961558, 22971997, 23945280, 24174593, 24487800, 24750328, 25165188, 25439738, 25676889, 25771894, 25943269, 30680856, 30962575		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	Charcot-Marie-Tooth Disease	UNIPROT_DG	22187985, 24174593, 24750328, 25165188, 25676889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	Charcot-Marie-Tooth Disease	CLINVAR_DG	22187985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	Charcot-Marie-Tooth Disease	ORPHANET_DG	22187985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	24174593, 27974406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23014460, 27733133, 30126379		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30126379		★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal upper limb amyotrophy	Distal upper limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	23515051	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37344480	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	38233384	Stimulate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	24961278		★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	29138824		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	20023659, 20803156, 21278336, 21719782, 21866090, 22187985, 22879592, 22961558, 22971997, 23014460, 24174593, 24487800, 24750328, 25165188, 25676889, 25771894, 25943269, 26039629, 26156092, 26764407, 26951353, 27350175, 29038887, 30126379, 30680856, 30962575, 31096240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	20023659		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	GENOMICS_ENGLAND_DG	25165188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis	UNIPROT_DG	20023659, 21258034, 21866090, 22971997, 23014460, 25165188		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis	CLINVAR_DG	22187985		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	25165188, 27974406		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	25165188		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	27350175, 29038887		★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	32727404	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	39609740	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	20023659, 21258034, 21866090, 22879592, 22971997, 23014460, 26764407, 26951353, 30126379, 31096240, 37491439, 38412658, 39609740	Associate	★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	20023659		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
hypertensive nephropathy	Hypertensive Nephropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24174593		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21278336, 24174593, 24961278, 26039629, 30680856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	24196483, 31096240	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	GENOMICS_ENGLAND_DG	25165188		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	27733133		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	22971997, 27733133, 30126379	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	23014460, 27733133, 30126379		★☆☆☆☆ Found in Text Mining only
Lipoid nephrosis	Lipoid Nephrosis	BEFREE	30126379		★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	30126379		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28448495		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30741413		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30741413		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37344480	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30741413		★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	30126379	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	23014460		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	21415313, 24196483, 26764407, 28921387, 35920919	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	26764407		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	20023659		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	22971997, 37491439	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29947928		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	22187985, 22961558, 22971997, 23945280, 25771894, 25943269, 30126379, 30680856, 30962575		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	24487800		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	24487800		★☆☆☆☆ Found in Text Mining only
Prion Diseases	Prion disease	Pubtator	39609740	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28448495		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28448495	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	27733133, 31937884	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	24961278		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	22187985, 22961558, 24174593, 25439738		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Neoplasms	Stomach neoplasms	Pubtator	24260584	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30741413		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30741413		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30158824		★☆☆☆☆ Found in Text Mining only