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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55640
Gene name	FLVCR choline and putative heme transporter 2
Gene symbol	FLVCR2
Synonyms (NCBI Gene)	C14orf58CCTEPVFLVCRL14qMFSD7CPVHHSLC49A2
Chromosome	14
Chromosome location	14q24.3
Summary	This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606822	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs267606823	C>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs267606824	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606825	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs757778790	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs759469907	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs780523767	T>C	Pathogenic	Splice donor variant

210

Show/Hide all (210)

miRTarBase ID	miRNA	Experiments	Reference
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT621324	hsa-miR-8485	HITS-CLIP	23824327
MIRT621323	hsa-miR-4643	HITS-CLIP	23824327
MIRT621322	hsa-miR-3166	HITS-CLIP	23824327
MIRT621321	hsa-miR-4771	HITS-CLIP	23824327
MIRT621320	hsa-miR-1273h-3p	HITS-CLIP	23824327
MIRT621319	hsa-let-7c-3p	HITS-CLIP	23824327
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT999221	hsa-miR-3942-5p	CLIP-seq
MIRT999222	hsa-miR-4307	CLIP-seq
MIRT999223	hsa-miR-4422	CLIP-seq
MIRT999224	hsa-miR-4464	CLIP-seq
MIRT999225	hsa-miR-4703-5p	CLIP-seq
MIRT999226	hsa-miR-4748	CLIP-seq
MIRT999227	hsa-miR-1252	CLIP-seq
MIRT999228	hsa-miR-129-3p	CLIP-seq
MIRT999229	hsa-miR-143	CLIP-seq
MIRT999230	hsa-miR-1910	CLIP-seq
MIRT999231	hsa-miR-1976	CLIP-seq
MIRT999232	hsa-miR-19a	CLIP-seq
MIRT999233	hsa-miR-19b	CLIP-seq
MIRT999234	hsa-miR-200b	CLIP-seq
MIRT999235	hsa-miR-200c	CLIP-seq
MIRT999236	hsa-miR-2053	CLIP-seq
MIRT999237	hsa-miR-2113	CLIP-seq
MIRT999238	hsa-miR-2115	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT999240	hsa-miR-2278	CLIP-seq
MIRT999241	hsa-miR-2355-5p	CLIP-seq
MIRT999242	hsa-miR-2467-3p	CLIP-seq
MIRT999243	hsa-miR-298	CLIP-seq
MIRT999244	hsa-miR-3064-3p	CLIP-seq
MIRT999245	hsa-miR-30a	CLIP-seq
MIRT999246	hsa-miR-30b	CLIP-seq
MIRT999247	hsa-miR-30c	CLIP-seq
MIRT999248	hsa-miR-30d	CLIP-seq
MIRT999249	hsa-miR-30e	CLIP-seq
MIRT999250	hsa-miR-3158-5p	CLIP-seq
MIRT999251	hsa-miR-3183	CLIP-seq
MIRT999252	hsa-miR-323-5p	CLIP-seq
MIRT999253	hsa-miR-342-5p	CLIP-seq
MIRT999254	hsa-miR-3680	CLIP-seq
MIRT999255	hsa-miR-3682-5p	CLIP-seq
MIRT999256	hsa-miR-3907	CLIP-seq
MIRT999257	hsa-miR-4252	CLIP-seq
MIRT999258	hsa-miR-4257	CLIP-seq
MIRT999259	hsa-miR-429	CLIP-seq
MIRT999224	hsa-miR-4464	CLIP-seq
MIRT999260	hsa-miR-4530	CLIP-seq
MIRT999261	hsa-miR-455-3p	CLIP-seq
MIRT999262	hsa-miR-4651	CLIP-seq
MIRT999263	hsa-miR-4664-5p	CLIP-seq
MIRT999264	hsa-miR-4707-5p	CLIP-seq
MIRT738491	hsa-miR-4715-3p	CLIP-seq
MIRT999265	hsa-miR-4723-3p	CLIP-seq
MIRT738493	hsa-miR-4727-5p	CLIP-seq
MIRT999226	hsa-miR-4748	CLIP-seq
MIRT999266	hsa-miR-4768-3p	CLIP-seq
MIRT999267	hsa-miR-4770	CLIP-seq
MIRT999268	hsa-miR-516a-3p	CLIP-seq
MIRT999269	hsa-miR-569	CLIP-seq
MIRT999270	hsa-miR-608	CLIP-seq
MIRT999271	hsa-miR-609	CLIP-seq
MIRT999272	hsa-miR-646	CLIP-seq
MIRT999273	hsa-miR-665	CLIP-seq
MIRT999274	hsa-miR-876-3p	CLIP-seq
MIRT999275	hsa-miR-922	CLIP-seq
MIRT1920429	hsa-miR-2467-5p	CLIP-seq
MIRT1920430	hsa-miR-378g	CLIP-seq
MIRT1920431	hsa-miR-433	CLIP-seq
MIRT1920432	hsa-miR-4712-3p	CLIP-seq
MIRT1996106	hsa-miR-128	CLIP-seq
MIRT1996107	hsa-miR-153	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT1996108	hsa-miR-27a	CLIP-seq
MIRT1996109	hsa-miR-27b	CLIP-seq
MIRT1996110	hsa-miR-3647-3p	CLIP-seq
MIRT1996111	hsa-miR-4282	CLIP-seq
MIRT2230144	hsa-miR-146b-3p	CLIP-seq
MIRT2230145	hsa-miR-190	CLIP-seq
MIRT2230146	hsa-miR-190b	CLIP-seq
MIRT999243	hsa-miR-298	CLIP-seq
MIRT999244	hsa-miR-3064-3p	CLIP-seq
MIRT2230147	hsa-miR-3145-5p	CLIP-seq
MIRT999250	hsa-miR-3158-5p	CLIP-seq
MIRT2230148	hsa-miR-3173-5p	CLIP-seq
MIRT2230149	hsa-miR-323b-3p	CLIP-seq
MIRT2230150	hsa-miR-34a	CLIP-seq
MIRT2230151	hsa-miR-34c-5p	CLIP-seq
MIRT2230152	hsa-miR-449a	CLIP-seq
MIRT2230153	hsa-miR-449b	CLIP-seq
MIRT2230154	hsa-miR-4696	CLIP-seq
MIRT738491	hsa-miR-4715-3p	CLIP-seq
MIRT2230155	hsa-miR-498	CLIP-seq
MIRT2230156	hsa-miR-874	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT2449800	hsa-miR-3160-5p	CLIP-seq
MIRT2449801	hsa-miR-455-5p	CLIP-seq
MIRT2449802	hsa-miR-4719	CLIP-seq
MIRT2449803	hsa-miR-510	CLIP-seq
MIRT2449804	hsa-miR-512-5p	CLIP-seq
MIRT2449805	hsa-miR-513b	CLIP-seq
MIRT2449806	hsa-miR-636	CLIP-seq
MIRT999239	hsa-miR-218	CLIP-seq
MIRT2449800	hsa-miR-3160-5p	CLIP-seq
MIRT2449801	hsa-miR-455-5p	CLIP-seq
MIRT2449802	hsa-miR-4719	CLIP-seq
MIRT2449803	hsa-miR-510	CLIP-seq
MIRT2449804	hsa-miR-512-5p	CLIP-seq
MIRT2449805	hsa-miR-513b	CLIP-seq
MIRT2449806	hsa-miR-636	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq
MIRT999218	hsa-miR-188-5p	CLIP-seq
MIRT999219	hsa-miR-204	CLIP-seq
MIRT999220	hsa-miR-211	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	32973183
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	38302740, 38778100
GO:0005886	Component	Plasma membrane	IEA
GO:0015220	Function	Choline transmembrane transporter activity	IDA	38302740, 38778100
GO:0015220	Function	Choline transmembrane transporter activity	IEA
GO:0015232	Function	Heme transmembrane transporter activity	IBA
GO:0015232	Function	Heme transmembrane transporter activity	IDA	20823265
GO:0015871	Process	Choline transport	IDA	38302740, 38778100
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	20823265, 32973183
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	32973183
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0034228	Function	Ethanolamine transmembrane transporter activity	IDA	38778100
GO:0034229	Process	Ethanolamine transport	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0097037	Process	Heme export	IBA
GO:0150104	Process	Transport across blood-brain barrier	ISS

MIM	HGNC	e!Ensembl
610865	20105	ENSG00000119686

Q9UPI3

Protein name

Choline/ethanolamine transporter FLVCR2 (Calcium-chelate transporter) (CCT) (Feline leukemia virus subgroup C receptor-related protein 2) (Heme transporter FLVCR2)

Protein function

Choline uniporter that specifically mediates choline uptake at the blood-brain-barrier (PubMed:38302740, PubMed:38778100). Responsible for the majority of choline uptake across the blood-brain-barrier from the circulation into the brain (By simi

PDB

8QCX , 8QCY , 8QCZ , 8QD0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	87 → 454	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney (PubMed:20823265). Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bo

Sequence

MVNEGPNQEESDDTPVPESALQADPSVSVHPSVSVHPSVSINPSVSVHPSSSAHPSALAQ
PSGLAHPSSSGPEDLSVIKVSRRRWAVVLVFSCYSMCNSFQWIQYGSINNIFMHFYGVSA
FAIDWLSMCYMLTYIPLLLPVAWLLEKFGLRTIALTGSALNCLGAWVKLGSLKPHLFPVT
VVGQLICSVAQVFILGMPSRIASVWFGANEVSTACSVAVFGNQLGIAIGFLVPPVLVPNI
EDRDELAYHISIMFYIIGGVATLLLILVIIVFKEKPKYPPSRAQSLSYALTSPDASYLGS
IARLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIWHYPGEEVNAGRIGLTIVIAGMLG
AVISGIWLDRSKTYKETTLVVYIMTLVGMVVYTFTLNLGHLWVVFITAGTMGFFMTGYLP
LGFEFAVELTYPESEGISSGLLNISAQVFGIIFTISQGQIIDNYGTKPGNIFLCVFLTLG
AALTAFIKADLRRQKANKETLENKLQEEEEESNTSKVPTAVSEDHL

Sequence length

526

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Fowler syndrome	Pathogenic; Likely pathogenic	rs267606825, rs746459536, rs267606822, rs138495705, rs267606823, rs267606824, rs780523767, rs2504063396, rs759296326, rs1594785775	RCV000001145 RCV000001146 RCV000001147 RCV000001148 RCV000001149 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BYZANTHINE ARCH PALATE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURE OF MULTIPLE JOINTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FLVCR2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posterior column ataxia-retinitis pigmentosa syndrome	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (79)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10936679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	19404951, 22896742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	26546777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16629782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	BEFREE	28879667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26081139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29362929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	20080638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27012814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24788909	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37500615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	31730841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract, total congenital with posterior sutural opacities in Heterozygotes	Congenital Cataract	BEFREE	20331799, 30895585, 8554050, 9232335, 9590153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	10961722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	10961722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Blindness, Red	Color blindness	BEFREE	28556475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25973098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28457930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	8238008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	14719121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20815947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	15976504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31735410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	10779843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	31735410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephaloclastic Proliferative Vasculopathy	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	BEFREE	20206334, 25677735		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephaloclastic Proliferative Vasculopathy	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	UNIPROT_DG	20206334, 20518025, 20690116		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephaloclastic Proliferative Vasculopathy	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	ORPHANET_DG	20206334		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephaloclastic Proliferative Vasculopathy	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	GENOMICS_ENGLAND_DG	20206334		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephaloclastic Proliferative Vasculopathy	Encephaloclastic proliferative vasculopathy	Pubtator	29500860, 38296890	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephaloclastic Proliferative Vasculopathy	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephaloclastic Proliferative Vasculopathy	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	BEFREE	12743564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fowler syndrome	Fowler Syndrome	BEFREE	20206334, 20518025, 20823265, 23506900, 25677735, 29500860		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fowler syndrome	Fowler Syndrome	ORPHANET_DG	20206334		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fowler vasculopaty	Fowler Vasculopaty	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	10779843, 31730841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	9590153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	28623285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	7955057		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	7955057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	BEFREE	25131804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	39206894	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	28165607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating 4	Hypomyelinating leukodystrophy	Pubtator	33076433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	16517839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29803925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	21621468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27012814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24379078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26304164, 26561808, 30588112, 31542526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31735410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14636579, 18419788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25345891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23738802, 28235053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28235053	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Disk Drusen	Optic Disk Drusen	BEFREE	10779843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28878336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	15976504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20815947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11485765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26241881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory Neuropathy, Hereditary	Sensory Neuropathy, Hereditary	BEFREE	28623285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31735410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	22896742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	8548037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28864630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24379078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20690116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	11865071		★★★★★ ★☆☆☆☆ Found in Text Mining only

FLVCR2 (FLVCR choline and putative heme transporter 2)