CUBN (cubilin)

Gene

• Entrez ID: 8029
• Gene name: Cubilin
• Gene symbol: CUBN
• Synonyms (NCBI Gene): IFCR, IGS, IGS1, MGA1, gp280
• Chromosome: 10
• Chromosome location: 10p13
• Summary: Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autos

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11254385	C>A	Likely-pathogenic	Missense variant, initiator codon variant, genic upstream transcript variant
rs117620008	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs121434430	G>A	Pathogenic, likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs137998687	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs140970422	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141640975	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs143944436	G>A	Pathogenic	Stop gained, coding sequence variant
rs145661597	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs145818316	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs146047781	A>G	Conflicting-interpretations-of-pathogenicity	Splice donor variant, genic upstream transcript variant
rs148869805	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs182512508	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, stop gained, genic upstream transcript variant
rs201720797	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs374417889	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs374695194	G>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs386833766	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs386833767	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833768	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833769	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs386833770	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833771	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833772	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833773	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833774	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833775	CCTACAGGTTCTTTCTCCA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833776	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs386833777	CT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs386833778	G>A,C,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant, stop gained
rs386833779	G>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, synonymous variant
rs386833780	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833781	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833782	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs386833783	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833784	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833785	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs386833786	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833787	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833788	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833789	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs386833790	A>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs386833791	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs747417629	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs754704005	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs757649673	AACCTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs764379478	C>A,T	Likely-pathogenic	Splice acceptor variant
rs765301342	GGTA>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs770921101	CGAAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1168074679	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1205598688	C>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1554790861	G>T	Pathogenic	Stop gained, coding sequence variant
rs1554816715	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1564379463	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1564435513	T>G	Likely-pathogenic	Splice acceptor variant
rs1564435943	G>A	Pathogenic	Stop gained, coding sequence variant
rs1564443979	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564492988	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1564516701	AACA>-	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1588511533	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1588639188	C>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT709694	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT709693	hsa-miR-140-5p	HITS-CLIP	19536157
MIRT709692	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709691	hsa-miR-3652	HITS-CLIP	19536157
MIRT709690	hsa-miR-4430	HITS-CLIP	19536157
MIRT645146	hsa-miR-3973	HITS-CLIP	23824327
MIRT645145	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT645144	hsa-miR-520h	HITS-CLIP	23824327
MIRT645143	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT645141	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT645142	hsa-miR-607	HITS-CLIP	23824327
MIRT709694	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT709693	hsa-miR-140-5p	HITS-CLIP	19536157
MIRT709692	hsa-miR-3135b	HITS-CLIP	19536157
MIRT709691	hsa-miR-3652	HITS-CLIP	19536157
MIRT709690	hsa-miR-4430	HITS-CLIP	19536157
MIRT645146	hsa-miR-3973	HITS-CLIP	23824327
MIRT645145	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT645144	hsa-miR-520h	HITS-CLIP	23824327
MIRT645143	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT645141	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT645142	hsa-miR-607	HITS-CLIP	23824327
MIRT916345	hsa-miR-1245	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916347	hsa-miR-125a-3p	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT916351	hsa-miR-370	CLIP-seq
MIRT916352	hsa-miR-371-5p	CLIP-seq
MIRT916353	hsa-miR-371b-5p	CLIP-seq
MIRT916354	hsa-miR-3934	CLIP-seq
MIRT916355	hsa-miR-3977	CLIP-seq
MIRT916356	hsa-miR-4423-5p	CLIP-seq
MIRT916357	hsa-miR-4474-5p	CLIP-seq
MIRT916358	hsa-miR-4714-3p	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT916365	hsa-miR-764	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971761	hsa-miR-27a	CLIP-seq
MIRT1971762	hsa-miR-27b	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT1971765	hsa-miR-4269	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT916356	hsa-miR-4423-5p	CLIP-seq
MIRT1971768	hsa-miR-4438	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT1971770	hsa-miR-4505	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT1971773	hsa-miR-5095	CLIP-seq
MIRT1971774	hsa-miR-513a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT1971775	hsa-miR-944	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT2207465	hsa-miR-1234	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT2207466	hsa-miR-150	CLIP-seq
MIRT2207467	hsa-miR-2681	CLIP-seq
MIRT2207468	hsa-miR-297	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT916352	hsa-miR-371-5p	CLIP-seq
MIRT916353	hsa-miR-371b-5p	CLIP-seq
MIRT1971765	hsa-miR-4269	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT1971768	hsa-miR-4438	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT916357	hsa-miR-4474-5p	CLIP-seq
MIRT916358	hsa-miR-4714-3p	CLIP-seq
MIRT2207469	hsa-miR-4757-5p	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971773	hsa-miR-5095	CLIP-seq
MIRT2207470	hsa-miR-512-3p	CLIP-seq
MIRT2207471	hsa-miR-567	CLIP-seq
MIRT1971775	hsa-miR-944	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq
MIRT1971758	hsa-miR-122	CLIP-seq
MIRT916346	hsa-miR-1254	CLIP-seq
MIRT916348	hsa-miR-129-5p	CLIP-seq
MIRT1971759	hsa-miR-1343	CLIP-seq
MIRT1971760	hsa-miR-142-3p	CLIP-seq
MIRT916349	hsa-miR-1976	CLIP-seq
MIRT916350	hsa-miR-3116	CLIP-seq
MIRT1971763	hsa-miR-3545-5p	CLIP-seq
MIRT1971764	hsa-miR-3650	CLIP-seq
MIRT1971766	hsa-miR-4279	CLIP-seq
MIRT1971767	hsa-miR-4280	CLIP-seq
MIRT1971769	hsa-miR-4460	CLIP-seq
MIRT916359	hsa-miR-4715-3p	CLIP-seq
MIRT1971771	hsa-miR-4722-3p	CLIP-seq
MIRT916360	hsa-miR-4735-5p	CLIP-seq
MIRT916361	hsa-miR-4775	CLIP-seq
MIRT916362	hsa-miR-4794	CLIP-seq
MIRT1971772	hsa-miR-498	CLIP-seq
MIRT2447819	hsa-miR-516a-5p	CLIP-seq
MIRT916363	hsa-miR-590-3p	CLIP-seq
MIRT916364	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001894	Process	Tissue homeostasis	NAS	11994745
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	14576052, 20237569, 30523278
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005903	Component	Brush border	IEA
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	NAS	11994745
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009235	Process	Cobalamin metabolic process	IDA	14576052
GO:0009617	Process	Response to bacterium	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015889	Process	Cobalamin transport	IDA	14576052
GO:0015889	Process	Cobalamin transport	TAS	10080186
GO:0016020	Component	Membrane	IDA	14576052
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9478979
GO:0016324	Component	Apical plasma membrane	IDA	14576052
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	NAS	14576052
GO:0030139	Component	Endocytic vesicle	IDA	14576052
GO:0030139	Component	Endocytic vesicle	IEA
GO:0031232	Component	Extrinsic component of external side of plasma membrane	NAS	11994745
GO:0031253	Component	Cell projection membrane	IEA
GO:0031419	Function	Cobalamin binding	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0031526	Component	Brush border membrane	NAS	11994745
GO:0031528	Component	Microvillus membrane	IDA	14576052
GO:0031528	Component	Microvillus membrane	IEA
GO:0038023	Function	Signaling receptor activity	TAS	10080186
GO:0038024	Function	Cargo receptor activity	EXP	14576052, 20237569, 30523278
GO:0038024	Function	Cargo receptor activity	IDA	14576052
GO:0038024	Function	Cargo receptor activity	TAS	9478979
GO:0042803	Function	Protein homodimerization activity	IDA	10552972
GO:0042953	Process	Lipoprotein transport	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043235	Component	Receptor complex	IPI	30523278
GO:0043235	Component	Receptor complex	ISS
GO:0045177	Component	Apical part of cell	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674

Other IDs

• MIM: 602997
• HGNC: 2548
• e!Ensembl: ENSG00000107611

Protein

• UniProt ID: O60494
• Protein name: Cubilin (460 kDa receptor) (Intestinal intrinsic factor receptor) (Intrinsic factor-cobalamin receptor) (Intrinsic factor-vitamin B12 receptor)
• Protein function: Endocytic receptor which plays a role in lipoprotein, vitamin and iron metabolism by facilitating their uptake (PubMed:10371504, PubMed:11606717, PubMed:11717447, PubMed:14576052, PubMed:9572993). Acts together with LRP2 to mediate endocytosis o
• PDB: 3KQ4, 6GJE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	136 → 166	EGF-like domain	Domain
  PF07645	EGF_CA	170 → 217	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	263 → 303	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	305 → 347	Calcium-binding EGF domain	Domain
  PF12947	EGF_3	353 → 388	EGF domain	Domain
  PF00008	EGF	399 → 428	EGF-like domain	Domain
  PF00008	EGF	436 → 466	EGF-like domain	Domain
  PF00431	CUB	474 → 583	CUB domain	Domain
  PF00431	CUB	590 → 699	CUB domain	Domain
  PF00431	CUB	708 → 813	CUB domain	Domain
  PF00431	CUB	817 → 925	CUB domain	Domain
  PF00431	CUB	932 → 1039	CUB domain	Domain
  PF00431	CUB	1048 → 1158	CUB domain	Domain
  PF00431	CUB	1165 → 1274	CUB domain	Domain
  PF00431	CUB	1278 → 1386	CUB domain	Domain
  PF00431	CUB	1391 → 1503	CUB domain	Domain
  PF00431	CUB	1510 → 1616	CUB domain	Domain
  PF00431	CUB	1620 → 1731	CUB domain	Domain
  PF00431	CUB	1738 → 1847	CUB domain	Domain
  PF00431	CUB	1852 → 1960	CUB domain	Domain
  PF00431	CUB	1978 → 2088	CUB domain	Domain
  PF00431	CUB	2092 → 2210	CUB domain	Domain
  PF00431	CUB	2217 → 2331	CUB domain	Domain
  PF00431	CUB	2336 → 2445	CUB domain	Domain
  PF00431	CUB	2452 → 2562	CUB domain	Domain
  PF00431	CUB	2570 → 2684	CUB domain	Domain
  PF00431	CUB	2689 → 2798	CUB domain	Domain
  PF00431	CUB	2805 → 2916	CUB domain	Domain
  PF00431	CUB	2920 → 3032	CUB domain	Domain
  PF00431	CUB	3037 → 3147	CUB domain	Domain
  PF00431	CUB	3157 → 3271	CUB domain	Domain
  PF00431	CUB	3278 → 3390	CUB domain	Domain
  PF00431	CUB	3395 → 3504	CUB domain	Domain
  PF00431	CUB	3511 → 3621	CUB domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in kidney cortex (at protein level) (PubMed:9572993). Expressed in kidney proximal tubule cells, placenta, visceral yolk-sac cells and in absorptive intestinal cells. Expressed in the epithelium of intestine and kidney. {ECO:0
• Sequence:

  MMNMSLPFLWSLLTLLIFAEVNGEAGELELQRQKRSINLQQPRMATERGNLVFLTGSAQN
  IEFRTGSLGKIKLNDEDLSECLHQIQKNKEDIIELKGSAIGLPQNISSQIYQLNSKLVDL
  ERKFQGLQQTVDKKVCSSNPCQNGGTCLNLHDSFFCICPPQWKGPLCSADVNECEIYSGT
  PLSCQNGGTCVNTMGSYSCHCPPETYGPQCASKYDDCEGGSVARCVHGICEDLMREQAGE
  PKYSCVCDAGWMFSPNSPACTLDRDECSFQPGPCSTLVQCFNTQGSFYCGACPTGWQGNG
  YICEDINECEINNGGCSVAPPVECVNTPGSSHCQACPPGYQGDGRVCTLTDICSVSNGGC
  HPDASCSSTLGSLPLCTCLPGYTGNGYGPNGCVQLSNICLSHPCLNGQCIDTVSGYFCKC
  DSGWTGVNCTENINECLSNPCLNGGTCVDGVDSFSCECTRLWTGALCQVPQQVCGESLSG
  INGSFSYRSPDVGYVHDVNCFWVIKTEMGKVLRITFTFFRLESMDNCPHEFLQVYDGDSS
  SAFQLGRFCGSSLPHELLSSDNALYFHLYSEHLRNGRGFTVRWETQQPECGGILTGPYGS
  IKSPGYPGNYPPGRDCVWIVVTSPDLLVTFTFGTLSLEHHDDCNKDYLEIRDGPLYQDPL
  LGKFCTTFSVPPLQTTGPFARIHFHSDSQISDQGFHITYLTSPSDLRCGGNYTDPEGELF
  LPELSGPFTHTRQCVYMMKQPQGEQIQINFTHVELQCQSDSSQNYIEVRDGETLLGKVCG
  NGTISHIKSITNSVWIRFKIDASVEKASFRAVYQVACGDELTGEGVIRSPFFPNVYPGER
  TCRWTIHQPQSQVILLNFTVFEIGSSAHCETDYVEIGSSSILGSPENKKYCGTDIPSFIT
  SVYNFLYVTFVKSSSTENHGFMAKFSAEDLACGEILTESTGTIQSPGHPNVYPHGINCTW
  HILVQPNHLIHLMFETFHLEFHYNCTNDYLEVYDTDSETSLGRYCGKSIPPSLTSSGNSL
  MLVFVTDSDLAYEGFLINYEAISAATACLQDYTDDLGTFTSPNFPNNYPNNWECIYRITV
  RTGQLIAVHFTNFSLEEAIGNYYTDFLEIRDGGYEKSPLLGIFYGSNLPPTIISHSNKLW
  LKFKSDQIDTRSGFSAYWDGSSTGCGGNLTTSSGTFISPNYPMPYYHSSECYWWLKSSHG
  SAFELEFKDFHLEHHPNCTLDYLAVYDGPSSNSHLLTQLCGDEKPPLIRSSGDSMFIKLR
  TDEGQQGRGFKAEYRQTCENVVIVNQTYGILESIGYPNPYSENQHCNWTIRATTGNTVNY
  TFLAFDLEHHINCSTDYLELYDGPRQMGRYCGVDLPPPGSTTSSKLQVLLLTDGVGRREK
  GFQMQWFVYGCGGELSGATGSFSSPGFPNRYPPNKECIWYIRTDPGSSIQLTIHDFDVEY
  HSRCNFDVLEIYGGPDFHSPRIAQLCTQRSPENPMQVSSTGNELAIRFKTDLSINGRGFN
  ASWQAVTGGCGGIFQAPSGEIHSPNYPSPYRSNTDCSWVIRVDRNHRVLLNFTDFDLEPQ
  DSCIMAYDGLSSTMSRLARTCGREQLANPIVSSGNSLFLRFQSGPSRQNRGFRAQFRQAC
  GGHILTSSFDTVSSPRFPANYPNNQNCSWIIQAQPPLNHITLSFTHFELERSTTCARDFV
  EILDGGHEDAPLRGRYCGTDMPHPITSFSSALTLRFVSDSSISAGGFHTTVTASVSACGG
  TFYMAEGIFNSPGYPDIYPPNVECVWNIVSSPGNRLQLSFISFQLEDSQDCSRDFVEIRE
  GNATGHLVGRYCGNSFPLNYSSIVGHTLWVRFISDGSGSGTGFQATFMKIFGNDNIVGTH
  GKVASPFWPENYPHNSNYQWTVNVNASHVVHGRILEMDIEEIQNCYYDKLRIYDGPSIHA
  RLIGAYCGTQTESFSSTGNSLTFHFYSDSSISGKGFLLEWFAVDAPDGVLPTIAPGACGG
  FLRTGDAPVFLFSPGWPDSYSNRVDCTWLIQAPDSTVELNILSLDIESHRTCAYDSLVIR
  DGDNNLAQQLAVLCGREIPGPIRSTGEYMFIRFTSDSSVTRAGFNASFHKSCGGYLHADR
  GIITSPKYPETYPSNLNCSWHVLVQSGLTIAVHFEQPFQIPNGDSSCNQGDYLVLRNGPD
  ICSPPLGPPGGNGHFCGSHASSTLFTSDNQMFVQFISDHSNEGQGFKIKYEAKSLACGGN
  VYIHDADSAGYVTSPNHPHNYPPHADCIWILAAPPETRIQLQFEDRFDIEVTPNCTSNYL
  ELRDGVDSDAPILSKFCGTSLPSSQWSSGEVMYLRFRSDNSPTHVGFKAKYSIAQCGGRV
  PGQSGVVESIGHPTLPYRDNLFCEWHLQGLSGHYLTISFEDFNLQNSSGCEKDFVEIWDN
  HTSGNILGRYCGNTIPDSIDTSSNTAVVRFVTDGSVTASGFRLRFESSMEECGGDLQGSI
  GTFTSPNYPNPNPHGRICEWRITAPEGRRITLMFNNLRLATHPSCNNEHVIVFNGIRSNS
  PQLEKLCSSVNVSNEIKSSGNTMKVIFFTDGSRPYGGFTASYTSSEDAVCGGSLPNTPEG
  NFTSPGYDGVRNYSRNLNCEWTLSNPNQGNSSISIHFEDFYLESHQDCQFDVLEFRVGDA
  DGPLMWRLCGPSKPTLPLVIPYSQVWIHFVTNERVEHIGFHAKYSFTDCGGIQIGDSGVI
  TSPNYPNAYDSLTHCSSLLEAPQGHTITLTFSDFDIEPHTTCAWDSVTVRNGGSPESPII
  GQYCGNSNPRTIQSGSNQLVVTFNSDHSLQGGGFYATWNTQTLGCGGIFHSDNGTIRSPH
  WPQNFPENSRCSWTAITHKSKHLEISFDNNFLIPSGDGQCQNSFVKVWAGTEEVDKALLA
  TGCGNVAPGPVITPSNTFTAVFQSQEAPAQGFSASFVSRCGSNFTGPSGYIISPNYPKQY
  DNNMNCTYVIEANPLSVVLLTFVSFHLEARSAVTGSCVNDGVHIIRGYSVMSTPFATVCG
  DEMPAPLTIAGPVLLNFYSNEQITDFGFKFSYRIISCGGVFNFSSGIITSPAYSYADYPN
  DMHCLYTITVSDDKVIELKFSDFDVVPSTSCSHDYLAIYDGANTSDPLLGKFCGSKRPPN
  VKSSNNSMLLVFKTDSFQTAKGWKMSFRQTLGPQQGCGGYLTGSNNTFASPDSDSNGMYD
  KNLNCVWIIIAPVNKVIHLTFNTFALEAASTRQRCLYDYVKLYDGDSENANLAGTFCGST
  VPAPFISSGNFLTVQFISDLTLEREGFNATYTIMDMPCGGTYNATWTPQNISSPNSSDPD
  VPFSICTWVIDSPPHQQVKITVWALQLTSQDCTQNYLQLQDSPQGHGNSRFQFCGRNASA
  VPVFYSSMSTAMVIFKSGVVNRNSRMSFTYQIADCNRDYHKAFGNLRSPGWPDNYDNDKD
  CTVTLTAPQNHTISLFFHSLGIENSVECRNDFLEVRNGSNSNSPLLGKYCGTLLPNPVFS
  QNNELYLRFKSDSVTSDRGYEIIWTSSPSGCGGTLYGDRGSFTSPGYPGTYPNNTYCEWV
  LVAPAGRLVTINFYFISIDDPGDCVQNYLTLYDGPNASSPSSGPYCGGDTSIAPFVASSN
  QVFIKFHADYARRPSAFRLTWDS

• Sequence length: 3623

Pathways

KEGG:

Vitamin digestion and absorption

Reactome:

Cobalamin (Cbl, vitamin B12) transport and metabolism
Vitamin D (calciferol) metabolism
Defective AMN causes hereditary megaloblastic anemia 1
Defective CUBN causes hereditary megaloblastic anemia 1
HDL clearance

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
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs143944436	RCV003313972	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic kidney disease	Likely pathogenic; Pathogenic	rs757649673	RCV004772856	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CUBN-related disorder	Likely pathogenic; Pathogenic	rs757649673, rs1353402674, rs765616473, rs745987406, rs2491946890, rs143944436, rs137998687, rs752843169, rs765301342, rs374417889	RCV003927567 RCV003410060 RCV003404063 RCV003399747 RCV003947213 RCV003918139 RCV004742573 RCV003975295 RCV003918263 RCV003928668	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Imerslund-Grasbeck syndrome	Likely pathogenic; Pathogenic	rs774493547, rs756427983, rs201426128, rs2131458386, rs1588646655, rs2131863686, rs2131869439, rs759203841, rs756614749, rs144484373, rs371489485, rs750520309, rs765941616, rs1841554531, rs2131400036, rs2131844654, rs757649673, rs1353402674, rs1431973744, rs776124003, rs765616473, rs2491116289, rs2491160372, rs1655263308, rs2491536970, rs2492100438, rs967367446, rs121434430, rs1349644537, rs1200249069, rs1237603270, rs2491529211, rs2491975846, rs375789806, rs770636895, rs2492087728, rs192997971, rs2491434471, rs2491943944, rs1370898196, rs1226768858, rs146319349, rs1343581366, rs2491125172, rs566060177, rs374695194, rs1168074679, rs1554790861, rs143944436, rs146047781, rs1564435943, rs145661597, rs137998687, rs754704005, rs1564379463, rs752843169, rs368697251, rs747417629, rs1564435513, rs1564443979, rs1564492988, rs765301342, rs769881615, rs770921101, rs386833766, rs386833767, rs386833768, rs386833769, rs386833770, rs386833771, rs182512508, rs386833772, rs386833773, rs386833774, rs386833775, rs386833776, rs386833777, rs386833778, rs386833779, rs386833780, rs386833781, rs386833783, rs386833784, rs386833785, rs386833786, rs386833787, rs386833788, rs386833789, rs386833790, rs386833791, rs386833782, rs1588639188, rs374417889, rs1588511533, rs147730705, rs557208468, rs2131458620, rs1841332247, rs374538208, rs776704427, rs1461982823, rs2131697094	RCV001865832 RCV001377461 RCV001388387 RCV001388462 RCV001384774 RCV001389345 RCV001390307 RCV002568229 RCV003505186 RCV001868833 RCV002541305 RCV001991604 RCV001992370 RCV001955924 RCV001933765 RCV002046703 RCV000169656 RCV003076464 RCV003074441 RCV003077236 RCV003090727 RCV002607777 RCV002796228 RCV002842710 RCV002885016 RCV003014823 RCV003038209 RCV000049749 RCV003611657 RCV003611659 RCV003506145 RCV003506197 RCV003506441 RCV003506515 RCV003506570 RCV003505714 RCV003612498 RCV003611899 RCV003613509 RCV003612080 RCV003816967 RCV003814973 RCV003861804 RCV003873522 RCV000290525 RCV003611520 RCV000625651 RCV000625850 RCV000705555 RCV000693751 RCV000702873 RCV000698044 RCV000690027 RCV000721975 RCV000735733 RCV000735723 RCV000735728 RCV000735676 RCV000735762 RCV000735732 RCV000735780 RCV000778276 RCV000778277 RCV000826101 RCV000049730 RCV000049731 RCV000049732 RCV000049733 RCV000049734 RCV000049735 RCV000049736 RCV000049737 RCV000049738 RCV000049739 RCV000049740 RCV000049741 RCV000049742 RCV000049743 RCV000049744 RCV000049745 RCV000049746 RCV000049747 RCV000049748 RCV000049750 RCV000049751 RCV000049752 RCV000049753 RCV000049754 RCV000049755 RCV000049756 RCV000050203 RCV001029867 RCV001029890 RCV001029895 RCV001037142 RCV001040296 RCV001054115 RCV003505165 RCV001205838 RCV001206326 RCV001212584 RCV002570443	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Imerslund-Grasbeck syndrome type 1	Likely pathogenic; Pathogenic	rs774493547, rs756427983, rs201426128, rs370038232, rs759203841, rs1161400848, rs756614749, rs144484373, rs371489485, rs767078847, rs750520309, rs2131845016, rs1399856074, rs757649673, rs776124003, rs121434430, rs2491711751, rs1370898196, rs146319349, rs1343581366, rs566060177, rs2492138978, rs2491510569, rs2491869860, rs2491477929, rs1205598688, rs145818316, rs143944436, rs146047781, rs145661597, rs754704005, rs1564412484, rs752843169, rs368697251, rs769881615, rs770921101, rs386833766, rs386833771, rs386833775, rs386833777, rs386833778, rs386833781, rs386833782, rs374417889, rs1588511533, rs2131820786, rs374538208, rs1461982823, rs2131697094	RCV001535916 RCV005038163 RCV002499808 RCV001536056 RCV001536060 RCV001536066 RCV002478008 RCV002272497 RCV005040384 RCV002478041 RCV005032083 RCV002272122 RCV002471966 RCV001535838 RCV005034633 RCV001093723 RCV003337777 RCV005047817 RCV005038533 RCV005038597 RCV003387829 RCV004515787 RCV004566413 RCV004555255 RCV004555256 RCV000023226 RCV002476318 RCV001536070 RCV005046943 RCV005034310 RCV005046978 RCV005400464 RCV002493368 RCV005036079 RCV005036096 RCV001535845 RCV005031536 RCV002496724 RCV005042160 RCV001095373 RCV002490624 RCV002483066 RCV002054879 RCV002497349 RCV002481841 RCV001095372 RCV002497701 RCV002491652 RCV002499442	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proteinuria	Likely pathogenic; Pathogenic	rs757649673	RCV005625353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteinuria, chronic benign	Likely pathogenic; Pathogenic	rs774493547, rs756427983, rs201426128, rs370038232, rs759203841, rs1161400848, rs756614749, rs144484373, rs371489485, rs2131331380, rs767078847, rs750520309, rs2131845016, rs558840029, rs1399856074, rs757649673, rs1353402674, rs776124003, rs121434430, rs376461109, rs1370898196, rs146319349, rs1343581366, rs566060177, rs2491157416, rs145818316, rs143944436, rs146047781, rs145661597, rs754704005, rs1564412484, rs752843169, rs368697251, rs1564492988, rs765301342, rs769881615, rs770921101, rs386833766, rs386833771, rs386833775, rs386833777, rs386833778, rs386833781, rs374417889, rs1588511533, rs374538208, rs1461982823, rs2131697094	RCV001535916 RCV005038163 RCV002499808 RCV001536056 RCV001536060 RCV001536066 RCV002478008 RCV005040373 RCV005040384 RCV001807888 RCV001807894 RCV005032083 RCV002272122 RCV002283884 RCV005032284 RCV001535838 RCV003236596 RCV005034633 RCV005041997 RCV003236661 RCV005047817 RCV005038533 RCV005038597 RCV005033861 RCV004595397 RCV002476318 RCV001536070 RCV005046943 RCV005034310 RCV005046978 RCV005400464 RCV002493368 RCV005036079 RCV001095375 RCV004788185 RCV005036096 RCV001535845 RCV005031536 RCV002496724 RCV005042160 RCV005042161 RCV002490624 RCV002483066 RCV002497349 RCV002481841 RCV002497701 RCV002491652 RCV001281293	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thymoma	Likely pathogenic; Pathogenic	rs1349644537	RCV005927742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, MEGALOBLASTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BINGE EATING	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	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 ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMERSLUND-GRASBECK SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMERSLUND-GRASBECK SYNDROME 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic anemia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MEGALOBLASTIC ANEMIA 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	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; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN B DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin B12 deficiency	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITAMIN DEFICIENCY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
3-@METHYLGLUTACONIC ACIDURIA, TYPE I	3-Methylglutaconic aciduria	BEFREE	15033206, 9572993		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31641537		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	29309806		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	25799011		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	10887099	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29402915		★☆☆☆☆ Found in Text Mining only
Anemia Megaloblastic	Megaloblastic anemia	Pubtator	31438875	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	BEFREE	10080186, 11169018, 16047053, 17285242, 21150213, 21750092, 31438875, 9572993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Megaloblastic	Anemia	GENOMICS_ENGLAND_DG	15024727, 22574174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Megaloblastic	Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	29391396		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18567755	Associate	★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	GWASCAT_DG	29391396		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26959381	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21818500		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28052770, 28260162, 35373928	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24052458, 30557881		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24052458	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31630189		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	22574174, 30557881		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	21691125, 22574174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	28052770		★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	21781439		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31434255		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31434255	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33235183	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	LHGDN	17979745		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28052770		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33004870	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	20855565	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	20855565, 24533076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dent Disease	Dent disease	Pubtator	23572577	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27197912, 30547231, 31630189		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31511532		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19366958, 23114252, 30547231, 31630189, 36926036, 37446387	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26465605, 27197912, 30547231, 31630189		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31511532		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19366958, 36926036	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30547231, 31630189, 36926036	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20398757		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	23945395		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27197912, 30547231, 30557881, 31770575		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	26465605, 30557881		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	28577559	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	31613795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	15033206		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	34979989	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	24533076	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	11169018		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31630189	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	36583005	Associate	★☆☆☆☆ Found in Text Mining only
	Imerslund-Grasbeck Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Intrinsic Factor Deficiency	Intrinsic Factor Deficiency	BEFREE	22929189		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	21903995, 30547231, 31438875	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27197912, 31438875, 31793908		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	23572577		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	22574174	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22574174, 30557881		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	28260162	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30218661		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	10080186, 10552972, 12590260, 12687456, 17285242, 21150213, 22078000, 23746554, 29402915		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21818500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25799011		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26959381		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28052770		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	25990418		★☆☆☆☆ Found in Text Mining only
Megaloblastic Anemia 1	Anemia	GENOMICS_ENGLAND_DG	10080186, 15024727, 21208123, 22574174, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic Anemia 1	Anemia	UNIPROT_DG	10080186, 10887099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic Anemia 1	Anemia	BEFREE	10552972, 10887099, 15738392, 16047053, 21750092, 22078000, 22854512, 22929189, 23746554, 26040326, 29402915, 30691194, 31613795, 9572993		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic Anemia 1	Anemia	CLINVAR_DG	15024727, 22929189, 25349199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic Anemia 1	Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megaloblastic anemia due to inborn errors of metabolism	Anemia	ORPHANET_DG	10080186		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Metabolic Diseases	Metabolic Diseases	BEFREE	15033206		★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	15738392	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	18448595	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28255749, 28260162		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	19586788, 30295181		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22006429	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25799011		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23334854, 25799011	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30557881		★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	30557881		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	21903995, 22574174, 30476138, 31438875, 31613795, 31793908, 34979989	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28052770		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	28577559	Inhibit	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	38008818	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	19161160		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26959381		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26959381	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31630189	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	31630189	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	21903995		★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	21903995, 25644490, 31613795	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only