FAT1 (FAT atypical cadherin 1)

Gene

• Entrez ID: 2195
• Gene name: FAT atypical cadherin 1
• Gene symbol: FAT1
• Synonyms (NCBI Gene): CDHF7, CDHR8, FAT, ME5, hFat1
• Chromosome: 4
• Chromosome location: 4q35.2
• Summary: This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane protei

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs180820128	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185078412	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs201488687	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs369363545	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs375998390	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1579327590	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1579484570	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1579484850	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1579491104	C>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047315	hsa-miR-181a-5p	CLASH	23622248
MIRT046601	hsa-miR-222-3p	CLASH	23622248
MIRT046026	hsa-miR-125b-5p	CLASH	23622248
MIRT440671	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440671	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT989787	hsa-miR-105	CLIP-seq
MIRT989788	hsa-miR-1244	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989790	hsa-miR-1302	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989795	hsa-miR-223	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT989798	hsa-miR-3122	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT989802	hsa-miR-3913-5p	CLIP-seq
MIRT989803	hsa-miR-4259	CLIP-seq
MIRT989804	hsa-miR-4298	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT989806	hsa-miR-4463	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT989810	hsa-miR-4697-3p	CLIP-seq
MIRT989811	hsa-miR-4703-3p	CLIP-seq
MIRT989812	hsa-miR-4711-5p	CLIP-seq
MIRT989813	hsa-miR-4715-5p	CLIP-seq
MIRT989814	hsa-miR-4719	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT989816	hsa-miR-4794	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT989820	hsa-miR-548u	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT989824	hsa-miR-875-3p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT989826	hsa-miR-892b	CLIP-seq
MIRT989788	hsa-miR-1244	CLIP-seq
MIRT989790	hsa-miR-1302	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989798	hsa-miR-3122	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT989802	hsa-miR-3913-5p	CLIP-seq
MIRT989803	hsa-miR-4259	CLIP-seq
MIRT989804	hsa-miR-4298	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT989811	hsa-miR-4703-3p	CLIP-seq
MIRT989813	hsa-miR-4715-5p	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT1548597	hsa-miR-621	CLIP-seq
MIRT989824	hsa-miR-875-3p	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993337	hsa-miR-1273d	CLIP-seq
MIRT1993338	hsa-miR-203	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT1993340	hsa-miR-3646	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT2227177	hsa-miR-3148	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT2227181	hsa-miR-4276	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT2227185	hsa-miR-4698	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548597	hsa-miR-621	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT2531139	hsa-miR-3163	CLIP-seq
MIRT2531140	hsa-miR-3169	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT2531141	hsa-miR-4284	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT2531142	hsa-miR-4700-3p	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2531143	hsa-miR-4740-5p	CLIP-seq
MIRT2531144	hsa-miR-4762-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT2531145	hsa-miR-548c-3p	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2531146	hsa-miR-548g	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT2531147	hsa-miR-549	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT2531148	hsa-miR-592	CLIP-seq
MIRT2531149	hsa-miR-597	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT2531150	hsa-miR-892a	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993337	hsa-miR-1273d	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT2680788	hsa-miR-3120-3p	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT2531139	hsa-miR-3163	CLIP-seq
MIRT2531140	hsa-miR-3169	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2680789	hsa-miR-3617	CLIP-seq
MIRT2680790	hsa-miR-3647-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT2680791	hsa-miR-4282	CLIP-seq
MIRT2531141	hsa-miR-4284	CLIP-seq
MIRT2680792	hsa-miR-4311	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT2531142	hsa-miR-4700-3p	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2531143	hsa-miR-4740-5p	CLIP-seq
MIRT2531144	hsa-miR-4762-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2680793	hsa-miR-520d-5p	CLIP-seq
MIRT2680794	hsa-miR-524-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT2531145	hsa-miR-548c-3p	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2531146	hsa-miR-548g	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT2531147	hsa-miR-549	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT2531148	hsa-miR-592	CLIP-seq
MIRT2531149	hsa-miR-597	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT2680795	hsa-miR-641	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT2531150	hsa-miR-892a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ING1	Unknown	15743678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0003412	Process	Establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16979624, 19131340
GO:0005634	Component	Nucleus	IDA	15922730
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15922730
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8586420
GO:0005911	Component	Cell-cell junction	IDA	15148305
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007015	Process	Actin filament organization	IEA
GO:0007015	Process	Actin filament organization	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	8586420
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	ISS
GO:0007267	Process	Cell-cell signaling	TAS	8586420
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	8586420
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016477	Process	Cell migration	ISS
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IEA
GO:0030175	Component	Filopodium	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15922730
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	ISS
GO:1904385	Process	Cellular response to angiotensin	IEA
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IEA

Other IDs

• MIM: 600976
• HGNC: 3595
• e!Ensembl: ENSG00000083857

Protein

• UniProt ID: Q14517
• Protein name: Protocadherin Fat 1 (Cadherin family member 7) (Cadherin-related tumor suppressor homolog) (Protein fat homolog) [Cleaved into: Protocadherin Fat 1, nuclear form]
• Protein function: [Protocadherin Fat 1]: Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	154 → 248	Cadherin domain	Domain
  PF00028	Cadherin	468 → 560	Cadherin domain	Domain
  PF00028	Cadherin	722 → 813	Cadherin domain	Domain
  PF00028	Cadherin	827 → 918	Cadherin domain	Domain
  PF00028	Cadherin	932 → 1023	Cadherin domain	Domain
  PF00028	Cadherin	1039 → 1130	Cadherin domain	Domain
  PF00028	Cadherin	1144 → 1236	Cadherin domain	Domain
  PF00028	Cadherin	1261 → 1344	Cadherin domain	Domain
  PF00028	Cadherin	1363 → 1447	Cadherin domain	Domain
  PF00028	Cadherin	1461 → 1553	Cadherin domain	Domain
  PF00028	Cadherin	1567 → 1658	Cadherin domain	Domain
  PF00028	Cadherin	1672 → 1756	Cadherin domain	Domain
  PF00028	Cadherin	1774 → 1868	Cadherin domain	Domain
  PF00028	Cadherin	1891 → 1970	Cadherin domain	Domain
  PF00028	Cadherin	1984 → 2072	Cadherin domain	Domain
  PF00028	Cadherin	2086 → 2175	Cadherin domain	Domain
  PF00028	Cadherin	2187 → 2274	Cadherin domain	Domain
  PF00028	Cadherin	2288 → 2381	Cadherin domain	Domain
  PF00028	Cadherin	2395 → 2483	Cadherin domain	Domain
  PF00028	Cadherin	2497 → 2587	Cadherin domain	Domain
  PF00028	Cadherin	2601 → 2694	Cadherin domain	Domain
  PF00028	Cadherin	2708 → 2800	Cadherin domain	Domain
  PF00028	Cadherin	2814 → 2909	Cadherin domain	Domain
  PF00028	Cadherin	2923 → 3014	Cadherin domain	Domain
  PF00028	Cadherin	3028 → 3116	Cadherin domain	Domain
  PF00028	Cadherin	3130 → 3221	Cadherin domain	Domain
  PF00028	Cadherin	3235 → 3326	Cadherin domain	Domain
  PF00028	Cadherin	3340 → 3431	Cadherin domain	Domain
  PF00028	Cadherin	3445 → 3536	Cadherin domain	Domain
  PF02210	Laminin_G_2	3859 → 3985	Laminin G domain	Domain
  PF00008	EGF	4017 → 4048	EGF-like domain	Domain
  PF00008	EGF	4093 → 4123	EGF-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many epithelial and some endothelial and smooth muscle cells.
• Sequence:

  MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMG
  VYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIV
  KALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGT
  NGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSM
  AKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLL
  QQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQF
  KAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLI
  SILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGT
  TVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRA
  SDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQ
  LVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYIN
  ITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTL
  PTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPL
  DRETTDKYTLNITVYDLGIPQKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSE
  IIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQ
  AREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSG
  QVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEV
  EVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDARRDGEIRYSIRDGSGVG
  VFKIGEETGVIETSDRLDRESTSHYWLTVFATDQGVVPLSSFIEIYIEVEDVNDNAPQTS
  EPVYYPEIMENSPKDVSVVQIEAFDPDSSSNDKLMYKITSGNPQGFFSIHPKTGLITTTS
  RKLDREQQDEHILEVTVTDNGSPPKSTIARVIVKILDENDNKPQFLQKFYKIRLPEREKP
  DRERNARREPLYHVIATDKDEGPNAEISYSIEDGNEHGKFFIEPKTGVVSSKRFSAAGEY
  DILSIKAVDNGRPQKSSTTRLHIEWISKPKPSLEPISFEESFFTFTVMESDPVAHMIGVI
  SVEPPGIPLWFDITGGNYDSHFDVDKGTGTIIVAKPLDAEQKSNYNLTVEATDGTTTILT
  QVFIKVIDTNDHRPQFSTSKYEVVIPEDTAPETEILQISAVDQDEKNKLIYTLQSSRDPL
  SLKKFRLDPATGSLYTSEKLDHEAVHQHTLTVMVRDQDVPVKRNFARIVVNVSDTNDHAP
  WFTASSYKGRVYESAAVGSVVLQVTALDKDKGKNAEVLYSIESGNIGNSFMIDPVLGSIK
  TAKELDRSNQAEYDLMVKATDKGSPPMSEITSVRIFVTIADNASPKFTSKEYSVELSETV
  SIGSFVGMVTAHSQSSVVYEIKDGNTGDAFDINPHSGTIITQKALDFETLPIYTLIIQGT
  NMAGLSTNTTVLVHLQDENDNAPVFMQAEYTGLISESASINSVVLTDRNVPLVIRAADAD
  KDSNALLVYHIVEPSVHTYFAIDSSTGAIHTVLSLDYEETSIFHFTVQVHDMGTPRLFAE
  YAANVTVHVIDINDCPPVFAKPLYEASLLLPTYKGVKVITVNATDADSSAFSQLIYSITE
  GNIGEKFSMDYKTGALTVQNTTQLRSRYELTVRASDGRFAGLTSVKINVKESKESHLKFT
  QDVYSAVVKENSTEAETLAVITAIGNPINEPLFYHILNPDRRFKISRTSGVLSTTGTPFD
  REQQEAFDVVVEVTEEHKPSAVAHVVVKVIVEDQNDNAPVFVNLPYYAVVKVDTEVGHVI
  RYVTAVDRDSGRNGEVHYYLKEHHEHFQIGPLGEISLKKQFELDTLNKEYLVTVVAKDGG
  NPAFSAEVIVPITVMNKAMPVFEKPFYSAEIAESIQVHSPVVHVQANSPEGLKVFYSITD
  GDPFSQFTINFNTGVINVIAPLDFEAHPAYKLSIRATDSLTGAHAEVFVDIIVDDINDNP
  PVFAQQSYAVTLSEASVIGTSVVQVRATDSDSEPNRGISYQMFGNHSKSHDHFHVDSSTG
  LISLLRTLDYEQSRQHTIFVRAVDGGMPTLSSDVIVTVDVTDLNDNPPLFEQQIYEARIS
  EHAPHGHFVTCVKAYDADSSDIDKLQYSILSGNDHKHFVIDSATGIITLSNLHRHALKPF
  YSLNLSVSDGVFRSSTQVHVTVIGGNLHSPAFLQNEYEVELAENAPLHTLVMEVKTTDGD
  SGIYGHVTYHIVNDFAKDRFYINERGQIFTLEKLDRETPAEKVISVRLMAKDAGGKVAFC
  TVNVILTDDNDNAPQFRATKYEVNIGSSAAKGTSVVKVLASDADEGSNADITYAIEADSE
  SVKENLEINKLSGVITTKESLIGLENEFFTFFVRAVDNGSPSKESVVLVYVKILPPEMQL
  PKFSEPFYTFTVSEDVPIGTEIDLIRAEHSGTVLYSLVKGNTPESNRDESFVIDRQSGRL
  KLEKSLDHETTKWYQFSILARCTQDDHEMVASVDVSIQVKDANDNSPVFESSPYEAFIVE
  NLPGGSRVIQIRASDADSGTNGQVMYSLDQSQSVEVIESFAINMETGWITTLKELDHEKR
  DNYQIKVVASDHGEKIQLSSTAIVDVTVTDVNDSPPRFTAEIYKGTVSEDDPQGGVIAIL
  STTDADSEEINRQVTYFITGGDPLGQFAVETIQNEWKVYVKKPLDREKRDNYLLTITATD
  GTFSSKAIVEVKVLDANDNSPVCEKTLYSDTIPEDVLPGKLIMQISATDADIRSNAEITY
  TLLGSGAEKFKLNPDTGELKTSTPLDREEQAVYHLLVRATDGGGRFCQASIVLTLEDVND
  NAPEFSADPYAITVFENTEPGTLLTRVQATDADAGLNRKILYSLIDSADGQFSINELSGI
  IQLEKPLDRELQAVYTLSLKAVDQGLPRRLTATGTVIVSVLDINDNPPVFEYREYGATVS
  EDILVGTEVLQVYAASRDIEANAEITYSIISGNEHGKFSIDSKTGAVFIIENLDYESSHE
  YYLTVEATDGGTPSLSDVATVNVNVTDINDNTPVFSQDTYTTVISEDAVLEQSVITVMAD
  DADGPSNSHIHYSIIDGNQGSSFTIDPVRGEVKVTKLLDRETISGYTLTVQASDNGSPPR
  VNTTTVNIDVSDVNDNAPVFSRGNYSVIIQENKPVGFSVLQLVVTDEDSSHNGPPFFFTI
  VTGNDEKAFEVNPQGVLLTSSAIKRKEKDHYLLQVKVADNGKPQLSSLTYIDIRVIEESI
  YPPAILPLEIFITSSGEEYSGGVIGKIHATDQDVYDTLTYSLDPQMDNLFSVSSTGGKLI
  AHKKLDIGQYLLNVSVTDGKFTTVADITVHIRQVTQEMLNHTIAIRFANLTPEEFVGDYW
  RNFQRALRNILGVRRNDIQIVSLQSSEPHPHLDVLLFVEKPGSAQISTKQLLHKINSSVT
  DIEEIIGVRILNVFQKLCAGLDCPWKFCDEKVSVDESVMSTHSTARLSFVTPRHHRAAVC
  LCKEGRCPPVHHGCEDDPCPEGSECVSDPWEEKHTCVCPSGRFGQCPGSSSMTLTGNSYV
  KYRLTENENKLEMKLTMRLRTYSTHAVVMYARGTDYSILEIHHGRLQYKFDCGSGPGIVS
  VQSIQVNDGQWHAVALEVNGNYARLVLDQVHTASGTAPGTLKTLNLDNYVFFGGHIRQQG
  TRHGRSPQVGNGFRGCMDSIYLNGQELPLNSKPRSYAHIEESVDVSPGCFLTATEDCASN
  PCQNGGVCNPSPAGGYYCKCSALYIGTHCEISVNPCSSKPCLYGGTCVVDNGGFVCQCRG
  LYTGQRCQLSPYCKDEPCKNGGTCFDSLDGAVCQCDSGFRGERCQSDIDECSGNPCLHGA
  LCENTHGSYHCNCSHEYRGRHCEDAAPNQYVSTPWNIGLAEGIGIVVFVAGIFLLVVVFV
  LCRKMISRKKKHQAEPKDKHLGPATAFLQRPYFDSKLNKNIYSDIPPQVPVRPISYTPSI
  PSDSRNNLDRNSFEGSAIPEHPEFSTFNPESVHGHRKAVAVCSVAPNLPPPPPSNSPSDS
  DSIQKPSWDFDYDTKVVDLDPCLSKKPLEEKPSQPYSARESLSEVQSLSSFQSESCDDNG
  YHWDTSDWMPSVPLPDIQEFPNYEVIDEQTPLYSADPNAIDTDYYPGGYDIESDFPPPPE
  DFPAADELPPLPPEFSNQFESIHPPRDMPAAGSLGSSSRNRQRFNLNQYLPNFYPLDMSE
  PQTKGTGENSTCREPHAPYPPGYQRHFEAPAVESMPMSVYASTASCSDVSACCEVESEVM
  MSDYESGDDGHFEEVTIPPLDSQQHTEV

• Sequence length: 4588

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
Congenital myasthenic syndrome 12	Likely pathogenic	rs1579484850	RCV000991431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FAT1-related disorder	Likely pathogenic	rs2126544181, rs751163127, rs2126488480	RCV001807884 RCV001808202 RCV004548682	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Finnish congenital nephrotic syndrome	Likely pathogenic	rs1579327590	RCV000852379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs1579491104	RCV000984107	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs2126488480	RCV005230500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic	rs983524169, rs375998390, rs570583897, rs369363545, rs201488687	RCV001732813 RCV000845129 RCV000845128 RCV000845127 RCV000845126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal dominant cerebellar ataxia	Likely benign; Benign; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF ESOPHAGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed speech and language development	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal and Segmental Glomerulosclerosis, Autosomal recessive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulotubular Nephropathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moderate intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spasticity	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	22116550, 23433465		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	27769066		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22116550, 23433465		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27834469		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23251365	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	BEFREE	27789520		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	27769066		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	34202629	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28771708		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	25910895		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	38001449	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19126244	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	26439923	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28771708		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16402135, 17938632		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	34167951	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15390180, 24052576, 26721716, 26825466, 30537512, 30569599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	29807833, 34288822, 34544752, 37804426	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	38369186	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Head	Neoplasm of head	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Cancer of Neck	Neck Cancer	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19126244, 32705150, 35844799	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	33928395	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24590895, 27014972, 32233593, 33420124	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26339598		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25303977, 30657779, 32500594, 35212236, 38086165, 39694330	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26721716		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30177273		★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	28114887		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22116550, 23433465		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27834469		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	16311342	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	25691459		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	24550227		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	27474225		★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	35179696, 36951427	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	17634405		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23354438, 27769066, 29733876, 30416985		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	23354438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27328312, 28551381, 36520636, 38364976	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	BEFREE	29722729, 30140279		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22939867		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	20174623		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	37511534	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28912452, 29775616		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28129444		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21454644		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21454644		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29344829, 31647139		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16911630, 8612437		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22629296	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	37341234	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	34167951	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	36941137	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36941137	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34712552	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27734031, 29565465, 31851786, 34263978, 35993362	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34185205	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	36951427	Associate	★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral Muscular Dystrophy	BEFREE	29436205		★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral muscular dystrophy	Pubtator	29436205	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26637972, 28270609		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	21270117		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	22959770		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	26925973		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23354438, 27536856, 28994107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	23354438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	27536856, 31992226, 35720420	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	22986533, 23354438, 27536856, 28994107		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22986533, 28994107, 29192322		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27536856, 31992226	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	32902815	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23354438, 30102337		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CTD_human_DG	23354438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26925973, 34167951, 38147801	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head Neoplasms	Head Neoplasms	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	34202629	Associate	★☆☆☆☆ Found in Text Mining only
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	BEFREE	28488382		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	30508070	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	26063364	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	29428312		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	27769066		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	16219805		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26063364	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24590895, 27536856	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33420124	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18852124		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27474225		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28912452, 29775616		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	26905694, 30862798		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35179696	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22116550		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23433465	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22116550		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	17325662, 21680732, 29037125		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19887546, 24590895, 28861323		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	17938632		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	17938632		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	17938632		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	17938632		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29317602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	28912804		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	27536856		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23354438		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15390180, 24052576, 26721716, 26825466, 30537512, 30569599		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26339598		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	17325662, 21680732, 29037125		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22213040, 31262891		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	BEFREE	27325650		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18852124		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29228735		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17081814, 23076869, 23354438, 28129444, 28249646, 28303381, 30102337, 30416985, 30657779, 31427592, 31783581, 31817001		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27834469		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	33181666	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21680732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	20174623		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29793999		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22457394	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16911630, 22456541, 27941426, 29793999, 30724038		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30184109		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	33418956	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos co-occurrent with congenital ocular coloboma	Microphthalmos Co-Occurrent With Congenital Ocular Coloboma	BEFREE	30862798		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	37511534	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	LHGDN	17325662		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	29037125, 34167951	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25743686	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	19888305	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	29436205		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30589501		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	29436205		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17081814, 17325662, 17634405, 18852124, 19126244, 21617878, 21680732, 22213040, 22986533, 23076869, 23354438, 24052576, 24550227, 24590895, 25555879, 26438511, 26721716, 27325650, 27536856, 27769066, 28366557, 28994107, 29192322, 29228735, 30537512, 30569599, 31034097, 31199602, 31262891, 31783581		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	16050398		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	16050398, 32902815	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	21270117, 28972610		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	GWASDB_DG	22197933		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	22959770		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	26721716		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18263877, 23334462, 25896263, 28577356, 28643234, 28653652, 29772234, 29793999, 29880034, 30012268, 30690068, 30690133, 30724038, 31764466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	22457394	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	BEFREE	30724038		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30514309		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35279875	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22213040, 31262891		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	31262891		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24625754	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	34054720, 36611251	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	27941426		★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	27325650	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	29428312		★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	Pubtator	34202629	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	22116550, 23433465		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	23433465		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23433465		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18852124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Proteinuria	Pubtator	32902815	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35860812	Associate	★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28393852		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	32139107	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25910895		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	29099504	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	38167455	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22765916		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36941137	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	36941137	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29899324		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31199602	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17325662		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17325662		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25151357		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28366557, 29565465, 31851786		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23619168, 24292195, 25275298, 26876381, 27693639, 28435450, 29053175, 29985391, 30046007, 30249886, 30431092, 30657779, 31090975, 31093971, 32738272, 33146897, 33390791, 33527763, 34167951, 34563788, 34598035, 34939311, 35705032, 37004423, 37245006, 37340028, 37341234	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26876381, 29985391, 30102337, 31817001		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21270117, 26637972, 28270609		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	26905694		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29228735		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32461621	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	36951427	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	28456717		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29807833		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37147285	Associate	★☆☆☆☆ Found in Text Mining only
Upper Aerodigestive Tract Neoplasms	Upper Aerodigestive Tract Neoplasms	CTD_human_DG	23354438		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24777035, 32705150	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	30567904	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30567904, 35205332	Associate	★☆☆☆☆ Found in Text Mining only
Van Maldergem Wetzburger Verloes syndrome	Cerebrofacioarticular Syndrome	BEFREE	28488382		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23785297		★☆☆☆☆ Found in Text Mining only