TCN2 (transcobalamin 2)

Gene

• Entrez ID: 6948
• Gene name: Transcobalamin 2
• Gene symbol: TCN2
• Synonyms (NCBI Gene): D22S676, D22S750, II, TC, TC II, TC-2, TC2, TCII
• Chromosome: 22
• Chromosome location: 22q12.2
• Summary: This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobala

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35915865	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs372866837	A>G,T	Pathogenic	Intron variant
rs606231119	T>G	Pathogenic	Intron variant, splice donor variant
rs778381859	TC>-	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs955351335	AG>-	Pathogenic	Splice acceptor variant
rs1057520098	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1157135425	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1456983114	C>T	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1461973241	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555895066	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555895069	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602043738	->CCTCCTA	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT621450	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT621449	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT621448	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT639820	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT621450	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT621449	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT621448	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT639819	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT621450	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT621449	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT621450	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT621449	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT621448	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT532707	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT532695	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT532706	hsa-miR-6514-5p	PAR-CLIP	21572407
MIRT532705	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT532704	hsa-miR-1273f	PAR-CLIP	21572407
MIRT532703	hsa-miR-4534	PAR-CLIP	21572407
MIRT532702	hsa-miR-8082	PAR-CLIP	21572407
MIRT532701	hsa-miR-4653-3p	PAR-CLIP	21572407
MIRT532700	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT532699	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT532698	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT532697	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT532696	hsa-miR-4775	PAR-CLIP	21572407
MIRT532695	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT532694	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT532693	hsa-miR-4659a-5p	PAR-CLIP	21572407
MIRT532692	hsa-miR-4659b-5p	PAR-CLIP	21572407
MIRT532691	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT532690	hsa-miR-3149	PAR-CLIP	21572407
MIRT532707	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT532695	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532706	hsa-miR-6514-5p	PAR-CLIP	22012620
MIRT532705	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT532704	hsa-miR-1273f	PAR-CLIP	22012620
MIRT532703	hsa-miR-4534	PAR-CLIP	22012620
MIRT532702	hsa-miR-8082	PAR-CLIP	22012620
MIRT532701	hsa-miR-4653-3p	PAR-CLIP	22012620
MIRT532700	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT532699	hsa-miR-19a-5p	PAR-CLIP	22012620
MIRT532698	hsa-miR-19b-1-5p	PAR-CLIP	22012620
MIRT532697	hsa-miR-19b-2-5p	PAR-CLIP	22012620
MIRT532696	hsa-miR-4775	PAR-CLIP	22012620
MIRT532695	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532694	hsa-miR-5590-5p	PAR-CLIP	22012620
MIRT532693	hsa-miR-4659a-5p	PAR-CLIP	22012620
MIRT532692	hsa-miR-4659b-5p	PAR-CLIP	22012620
MIRT532691	hsa-miR-4776-3p	PAR-CLIP	22012620
MIRT532690	hsa-miR-3149	PAR-CLIP	22012620
MIRT448110	hsa-miR-6873-5p	PAR-CLIP	22100165
MIRT448108	hsa-miR-4419a	PAR-CLIP	22100165
MIRT448109	hsa-miR-4510	PAR-CLIP	22100165
MIRT448107	hsa-miR-6127	PAR-CLIP	22100165
MIRT448106	hsa-miR-6129	PAR-CLIP	22100165
MIRT448105	hsa-miR-6130	PAR-CLIP	22100165
MIRT448104	hsa-miR-6133	PAR-CLIP	22100165
MIRT448103	hsa-miR-4300	PAR-CLIP	22100165
MIRT448102	hsa-miR-5591-5p	PAR-CLIP	22100165
MIRT448101	hsa-miR-6726-5p	PAR-CLIP	22100165
MIRT448100	hsa-miR-920	PAR-CLIP	22100165
MIRT448099	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT448098	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT621450	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT621449	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT621448	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT639820	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT621450	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT621449	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT621448	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT639819	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT621450	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT621449	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT621452	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT621451	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT621450	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT621449	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT621448	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT532707	hsa-miR-590-3p	PAR-CLIP	21572407
MIRT532695	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT532706	hsa-miR-6514-5p	PAR-CLIP	21572407
MIRT532705	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT532704	hsa-miR-1273f	PAR-CLIP	21572407
MIRT532703	hsa-miR-4534	PAR-CLIP	21572407
MIRT532702	hsa-miR-8082	PAR-CLIP	21572407
MIRT532701	hsa-miR-4653-3p	PAR-CLIP	21572407
MIRT532700	hsa-miR-6832-5p	PAR-CLIP	21572407
MIRT532699	hsa-miR-19a-5p	PAR-CLIP	21572407
MIRT532698	hsa-miR-19b-1-5p	PAR-CLIP	21572407
MIRT532697	hsa-miR-19b-2-5p	PAR-CLIP	21572407
MIRT532696	hsa-miR-4775	PAR-CLIP	21572407
MIRT532695	hsa-miR-411-5p	PAR-CLIP	21572407
MIRT532694	hsa-miR-5590-5p	PAR-CLIP	21572407
MIRT532693	hsa-miR-4659a-5p	PAR-CLIP	21572407
MIRT532692	hsa-miR-4659b-5p	PAR-CLIP	21572407
MIRT532691	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT532690	hsa-miR-3149	PAR-CLIP	21572407
MIRT532707	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT532695	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532706	hsa-miR-6514-5p	PAR-CLIP	22012620
MIRT532705	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT532704	hsa-miR-1273f	PAR-CLIP	22012620
MIRT532703	hsa-miR-4534	PAR-CLIP	22012620
MIRT532702	hsa-miR-8082	PAR-CLIP	22012620
MIRT532701	hsa-miR-4653-3p	PAR-CLIP	22012620
MIRT532700	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT532699	hsa-miR-19a-5p	PAR-CLIP	22012620
MIRT532698	hsa-miR-19b-1-5p	PAR-CLIP	22012620
MIRT532697	hsa-miR-19b-2-5p	PAR-CLIP	22012620
MIRT532696	hsa-miR-4775	PAR-CLIP	22012620
MIRT532695	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532694	hsa-miR-5590-5p	PAR-CLIP	22012620
MIRT532693	hsa-miR-4659a-5p	PAR-CLIP	22012620
MIRT532692	hsa-miR-4659b-5p	PAR-CLIP	22012620
MIRT532691	hsa-miR-4776-3p	PAR-CLIP	22012620
MIRT532690	hsa-miR-3149	PAR-CLIP	22012620
MIRT448110	hsa-miR-6873-5p	PAR-CLIP	22100165
MIRT448108	hsa-miR-4419a	PAR-CLIP	22100165
MIRT448109	hsa-miR-4510	PAR-CLIP	22100165
MIRT448107	hsa-miR-6127	PAR-CLIP	22100165
MIRT448106	hsa-miR-6129	PAR-CLIP	22100165
MIRT448105	hsa-miR-6130	PAR-CLIP	22100165
MIRT448104	hsa-miR-6133	PAR-CLIP	22100165
MIRT448103	hsa-miR-4300	PAR-CLIP	22100165
MIRT448102	hsa-miR-5591-5p	PAR-CLIP	22100165
MIRT448101	hsa-miR-6726-5p	PAR-CLIP	22100165
MIRT448100	hsa-miR-920	PAR-CLIP	22100165
MIRT448099	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT448098	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT2640342	hsa-miR-103b	CLIP-seq
MIRT2640343	hsa-miR-1234	CLIP-seq
MIRT2640344	hsa-miR-1245b-5p	CLIP-seq
MIRT2640345	hsa-miR-1248	CLIP-seq
MIRT2640346	hsa-miR-1286	CLIP-seq
MIRT2640347	hsa-miR-129-5p	CLIP-seq
MIRT2640348	hsa-miR-140-3p	CLIP-seq
MIRT2640349	hsa-miR-1468	CLIP-seq
MIRT2640350	hsa-miR-185	CLIP-seq
MIRT2640351	hsa-miR-3127-5p	CLIP-seq
MIRT2640352	hsa-miR-3142	CLIP-seq
MIRT2640353	hsa-miR-3150b-3p	CLIP-seq
MIRT2640354	hsa-miR-3545-5p	CLIP-seq
MIRT2640355	hsa-miR-3651	CLIP-seq
MIRT2640356	hsa-miR-3918	CLIP-seq
MIRT2640357	hsa-miR-3943	CLIP-seq
MIRT2640358	hsa-miR-412	CLIP-seq
MIRT2640359	hsa-miR-4252	CLIP-seq
MIRT2640360	hsa-miR-4306	CLIP-seq
MIRT2640361	hsa-miR-4323	CLIP-seq
MIRT2640362	hsa-miR-4487	CLIP-seq
MIRT2640363	hsa-miR-4644	CLIP-seq
MIRT2640364	hsa-miR-4656	CLIP-seq
MIRT2640365	hsa-miR-4689	CLIP-seq
MIRT2640366	hsa-miR-4695-5p	CLIP-seq
MIRT2640367	hsa-miR-4722-5p	CLIP-seq
MIRT2640368	hsa-miR-4731-5p	CLIP-seq
MIRT2640369	hsa-miR-4754	CLIP-seq
MIRT2640370	hsa-miR-4784	CLIP-seq
MIRT2640371	hsa-miR-513b	CLIP-seq
MIRT2640372	hsa-miR-615-5p	CLIP-seq
MIRT2640373	hsa-miR-759	CLIP-seq
MIRT2640374	hsa-miR-922	CLIP-seq
MIRT2640342	hsa-miR-103b	CLIP-seq
MIRT2640343	hsa-miR-1234	CLIP-seq
MIRT2640344	hsa-miR-1245b-5p	CLIP-seq
MIRT2640345	hsa-miR-1248	CLIP-seq
MIRT2640346	hsa-miR-1286	CLIP-seq
MIRT2640347	hsa-miR-129-5p	CLIP-seq
MIRT2640348	hsa-miR-140-3p	CLIP-seq
MIRT2692841	hsa-miR-143	CLIP-seq
MIRT2640349	hsa-miR-1468	CLIP-seq
MIRT2640350	hsa-miR-185	CLIP-seq
MIRT2640351	hsa-miR-3127-5p	CLIP-seq
MIRT2640352	hsa-miR-3142	CLIP-seq
MIRT2640353	hsa-miR-3150b-3p	CLIP-seq
MIRT2640354	hsa-miR-3545-5p	CLIP-seq
MIRT2640355	hsa-miR-3651	CLIP-seq
MIRT2640356	hsa-miR-3918	CLIP-seq
MIRT2640357	hsa-miR-3943	CLIP-seq
MIRT2640358	hsa-miR-412	CLIP-seq
MIRT2692842	hsa-miR-4251	CLIP-seq
MIRT2640359	hsa-miR-4252	CLIP-seq
MIRT2692843	hsa-miR-4294	CLIP-seq
MIRT2640360	hsa-miR-4306	CLIP-seq
MIRT2640361	hsa-miR-4323	CLIP-seq
MIRT2692844	hsa-miR-4329	CLIP-seq
MIRT2692845	hsa-miR-4480	CLIP-seq
MIRT2640362	hsa-miR-4487	CLIP-seq
MIRT2640363	hsa-miR-4644	CLIP-seq
MIRT2640364	hsa-miR-4656	CLIP-seq
MIRT2640365	hsa-miR-4689	CLIP-seq
MIRT2640366	hsa-miR-4695-5p	CLIP-seq
MIRT2692846	hsa-miR-4708-5p	CLIP-seq
MIRT2640367	hsa-miR-4722-5p	CLIP-seq
MIRT2640368	hsa-miR-4731-5p	CLIP-seq
MIRT2640369	hsa-miR-4754	CLIP-seq
MIRT2692847	hsa-miR-4770	CLIP-seq
MIRT2640370	hsa-miR-4784	CLIP-seq
MIRT2640371	hsa-miR-513b	CLIP-seq
MIRT2640372	hsa-miR-615-5p	CLIP-seq
MIRT2640373	hsa-miR-759	CLIP-seq
MIRT2640374	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	9774437
SP3	Unknown	9774437
USF1	Unknown	9774437
USF2	Unknown	9774437

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27411955
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	8443384
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	1708393
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006824	Process	Cobalt ion transport	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0015889	Process	Cobalamin transport	IBA
GO:0015889	Process	Cobalamin transport	IDA	8443384
GO:0015889	Process	Cobalamin transport	IEA
GO:0015889	Process	Cobalamin transport	TAS	3782074
GO:0031419	Function	Cobalamin binding	IBA
GO:0031419	Function	Cobalamin binding	IDA	8443384, 16537422, 27411955
GO:0031419	Function	Cobalamin binding	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0140104	Function	Molecular carrier activity	IEA
GO:0140355	Function	Cargo receptor ligand activity	EXP	3782074
GO:0140355	Function	Cargo receptor ligand activity	IEA

Other IDs

• MIM: 613441
• HGNC: 11653
• e!Ensembl: ENSG00000185339

Protein

• UniProt ID: P20062
• Protein name: Transcobalamin-2 (TC-2) (Transcobalamin II) (TC II) (TCII)
• Protein function: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
• PDB: 2BB5, 4ZRP, 4ZRQ, 5NO0, 5NP4, 5NRP, 5NSA, 7QBD, 7QBE, 7QBF, 7QBG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01122	Cobalamin_bind	3 → 327	Eukaryotic cobalamin-binding protein	Family
  PF14478	DUF4430	352 → 426	Domain of unknown function (DUF4430)	Domain

• Sequence:

  MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRL
  SSLQAGTKEDLYLHSLKLGYQQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVR
  GHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLL
  YAVEPFHQGHHSVDTAAMAGLAFTCLKRSNFNPGRRQRITMAIRTVREEILKAQTPEGHF
  GNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKT
  YIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLK
  KAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETI
  ELRLVSW

• Sequence length: 427

Pathways

KEGG:

Vitamin digestion and absorption
Cobalamin transport and metabolism

Reactome:

Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective TCN2 causes hereditary megaloblastic anemia
Defective CD320 causes methylmalonic aciduria

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
Pancytopenia	Likely pathogenic; Pathogenic	rs2087581122	RCV001730751	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TCN2-related disorder	Likely pathogenic; Pathogenic	rs2517903551, rs1198019350	RCV003400105 RCV003909040	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transcobalamin II deficiency	Likely pathogenic; Pathogenic	rs2145536487, rs2145536721, rs771755125, rs2145545140, rs766478911, rs1157135425, rs606231119, rs372866837, rs2145548128, rs747615809, rs747257199, rs1252562083, rs2517908566, rs2517903551, rs2517912426, rs2517906638, rs2517903686, rs2517912354, rs779779694, rs1166150272, rs1198019350, rs2517908612, rs2517908693, rs757114327, rs2517900064, rs2517903801, rs2087630072, rs757973864, rs2517906503, rs2517900101, rs1371200045, rs1387442810, rs2087582545, rs769078432, rs1057520098, rs1456983114, rs1555895066, rs1461973241, rs955351335, rs1602043738, rs2087528394, rs2087532435, rs2087564577, rs1279321570, rs2087720794, rs2087597945, rs2087581122	RCV001378425 RCV001542703 RCV001806355 RCV001901214 RCV001863330 RCV000000116 RCV000000118 RCV000000120 RCV003598065 RCV003598143 RCV003064652 RCV002611505 RCV003153007 RCV003495335 RCV003496105 RCV003496074 RCV003496302 RCV003496937 RCV003497066 RCV003494766 RCV003494767 RCV003495044 RCV003495667 RCV003598411 RCV003598913 RCV003598983 RCV003599017 RCV003599512 RCV003599640 RCV003599765 RCV003597662 RCV003597750 RCV003597933 RCV003598498 RCV003843073 RCV003766185 RCV000779371 RCV000537950 RCV005056230 RCV000815743 RCV000990420 RCV001041864 RCV001070797 RCV001055147 RCV001070249 RCV001035380 RCV001078181 RCV001212472	★★★★★ 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	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, MEGALOBLASTIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGALOBLASTIC ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TCN2 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSCOBALAMIN DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely 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
Adenoma	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	19353223	Associate	★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	GENOMICS_ENGLAND_DG	10518276, 18956254, 18956255		★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	GENOMICS_ENGLAND_DG	19373259		★☆☆☆☆ Found in Text Mining only
Anemia Megaloblastic	Megaloblastic anemia	Pubtator	14689755, 33023511	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	BEFREE	12064907, 14689755, 508619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Megaloblastic	Anemia	LHGDN	12064907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Megaloblastic	Anemia	CTD_human_DG	4627864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	26547705	Stimulate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29348398		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	16917939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	21688148		★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	18799873		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	21935458	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21935458, 21975197		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	16894458		★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	36508471	Associate	★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	36508471	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CTD_human_DG	15753437		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	27604992, 31663440, 31663447	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	16470748, 31663447		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	25716564, 27604992, 31663447	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25173634		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17164363, 19936946, 22794911		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17389618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19936946, 26108676	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital omphalocele	Congenital omphalocele	BEFREE	15937947, 22116453		★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	36672920	Associate	★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	22868813		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	22188304		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	22188304		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	18226574, 22188304, 28903415		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22957492, 28472811		★☆☆☆☆ Found in Text Mining only
DERMODISTORTIVE URTICARIA	Dermodistortive Urticaria	BEFREE	6945804		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32794382	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32794382	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19274320, 22377700		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	19274320, 22377700	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	37800653	Associate	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	28472811		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17119065		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17119065		★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	35488219	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	12694331, 16820193		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	LHGDN	16820193		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31815282	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31815282		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28874504	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	33023511	Associate	★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	11182287		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	39589317	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	19373259		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	14689755	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	18799873		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21935458		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	2169922		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	2169922, 8978297	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CTD_human_DG	15753437		★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	24563082		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	23099805	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28874504		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	3466852		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	19546821		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	19546821	Associate	★☆☆☆☆ Found in Text Mining only
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	28975627, 8978297	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	28155977	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	7742531	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21067621	Associate	★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	GWASDB_DG	22544364		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	GWASCAT_DG	22544364		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27733392	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	14689755, 15782407, 21770021, 2430743, 31139930		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	14689755	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	LHGDN	15782407		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	GENOMICS_ENGLAND_DG	10518276, 18956254, 18956255		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenic colitis	Neutropenic Colitis	GENOMICS_ENGLAND_DG	10518276, 18956254, 18956255		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28417558		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32794382	Associate	★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	BEFREE	31663440		★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26963196	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	GENOMICS_ENGLAND_DG	10518276, 18956254, 18956255		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancytopenia	Pancytopenia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary adenoma	Papillary Adenoma	CTD_human_DG	17389618		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27733392		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	27733392	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	27733392		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	20237949		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25599563		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	19373259		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	33023511	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	29379198		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	21975197	Associate	★☆☆☆☆ Found in Text Mining only
Transcobalamin deficiency	Transcobalamin Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transcobalamin II deficiency	Transcobalamin Deficiency	GENOMICS_ENGLAND_DG	10518276, 18956254, 18956255, 7849710		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transcobalamin II deficiency	Transcobalamin Deficiency	BEFREE	10714245, 6696994		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transcobalamin II deficiency	Transcobalamin Deficiency	CLINVAR_DG	20352340, 24305960		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transcobalamin II deficiency	Transcobalamin Deficiency	ORPHANET_DG	20607612		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Transcobalamin II deficiency	Transcobalamin Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16047053		★☆☆☆☆ Found in Text Mining only
Typhlitis	Typhlitis	GENOMICS_ENGLAND_DG	10518276, 18956254, 18956255		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	18700049, 28526947		★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Vitamin b deficiency	Pubtator	12091374, 14689755, 30761942	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	14689755, 25657319, 28472811		★☆☆☆☆ Found in Text Mining only