ABCB7 (ATP binding cassette subfamily B member 7)

Gene

• Entrez ID: 22
• Gene name: ATP binding cassette subfamily B member 7
• Gene symbol: ABCB7
• Synonyms (NCBI Gene): ABC7, ASAT, Atm1p, EST140535
• Chromosome: X
• Chromosome location: Xq13.3
• Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1133577	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs72554634	A>C,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs80356713	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs80356714	C>T	Pathogenic	Coding sequence variant, missense variant
rs515726147	T>A	Pathogenic	Missense variant, coding sequence variant
rs797044558	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1057518042	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555945011	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019397	hsa-miR-148b-3p	Microarray	17612493
MIRT023677	hsa-miR-1-3p	Proteomics	18668040
MIRT051202	hsa-miR-16-5p	CLASH	23622248
MIRT050748	hsa-miR-17-3p	CLASH	23622248
MIRT050056	hsa-miR-26a-5p	CLASH	23622248
MIRT047592	hsa-miR-10a-5p	CLASH	23622248
MIRT044862	hsa-miR-195-5p	CLASH	23622248
MIRT036642	hsa-miR-935	CLASH	23622248
MIRT650137	hsa-miR-5692a	HITS-CLIP	23824327
MIRT650136	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT650135	hsa-miR-888-5p	HITS-CLIP	23824327
MIRT650133	hsa-miR-4495	HITS-CLIP	23824327
MIRT650134	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT650132	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT650130	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT650131	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT497947	hsa-miR-548a-3p	PAR-CLIP	22291592
MIRT497946	hsa-miR-548ar-3p	PAR-CLIP	22291592
MIRT497945	hsa-miR-548az-3p	PAR-CLIP	22291592
MIRT497944	hsa-miR-548e-3p	PAR-CLIP	22291592
MIRT497943	hsa-miR-548f-3p	PAR-CLIP	22291592
MIRT497942	hsa-miR-5582-3p	PAR-CLIP	22291592
MIRT497941	hsa-miR-548ag	PAR-CLIP	22291592
MIRT497940	hsa-miR-548ai	PAR-CLIP	22291592
MIRT497939	hsa-miR-548ba	PAR-CLIP	22291592
MIRT497938	hsa-miR-570-5p	PAR-CLIP	22291592
MIRT497937	hsa-miR-6814-5p	PAR-CLIP	22291592
MIRT497936	hsa-miR-150-5p	PAR-CLIP	22291592
MIRT497935	hsa-miR-6749-3p	PAR-CLIP	22291592
MIRT650137	hsa-miR-5692a	HITS-CLIP	23824327
MIRT650136	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT650135	hsa-miR-888-5p	HITS-CLIP	23824327
MIRT650133	hsa-miR-4495	HITS-CLIP	23824327
MIRT650134	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT650132	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT650130	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT650131	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT497947	hsa-miR-548a-3p	PAR-CLIP	22291592
MIRT497946	hsa-miR-548ar-3p	PAR-CLIP	22291592
MIRT497945	hsa-miR-548az-3p	PAR-CLIP	22291592
MIRT497944	hsa-miR-548e-3p	PAR-CLIP	22291592
MIRT497943	hsa-miR-548f-3p	PAR-CLIP	22291592
MIRT497942	hsa-miR-5582-3p	PAR-CLIP	22291592
MIRT497941	hsa-miR-548ag	PAR-CLIP	22291592
MIRT497940	hsa-miR-548ai	PAR-CLIP	22291592
MIRT497939	hsa-miR-548ba	PAR-CLIP	22291592
MIRT497938	hsa-miR-570-5p	PAR-CLIP	22291592
MIRT497937	hsa-miR-6814-5p	PAR-CLIP	22291592
MIRT497936	hsa-miR-150-5p	PAR-CLIP	22291592
MIRT497935	hsa-miR-6749-3p	PAR-CLIP	22291592
MIRT758199	hsa-miR-130a	CLIP-seq
MIRT758200	hsa-miR-130b	CLIP-seq
MIRT758201	hsa-miR-148a	CLIP-seq
MIRT758202	hsa-miR-148b	CLIP-seq
MIRT758203	hsa-miR-152	CLIP-seq
MIRT758204	hsa-miR-19a	CLIP-seq
MIRT758205	hsa-miR-19b	CLIP-seq
MIRT758206	hsa-miR-301a	CLIP-seq
MIRT758207	hsa-miR-301b	CLIP-seq
MIRT758208	hsa-miR-3666	CLIP-seq
MIRT758209	hsa-miR-3668	CLIP-seq
MIRT758210	hsa-miR-3977	CLIP-seq
MIRT758211	hsa-miR-4276	CLIP-seq
MIRT758212	hsa-miR-4295	CLIP-seq
MIRT758213	hsa-miR-454	CLIP-seq
MIRT758199	hsa-miR-130a	CLIP-seq
MIRT758200	hsa-miR-130b	CLIP-seq
MIRT758201	hsa-miR-148a	CLIP-seq
MIRT758202	hsa-miR-148b	CLIP-seq
MIRT758203	hsa-miR-152	CLIP-seq
MIRT758204	hsa-miR-19a	CLIP-seq
MIRT758205	hsa-miR-19b	CLIP-seq
MIRT758206	hsa-miR-301a	CLIP-seq
MIRT758207	hsa-miR-301b	CLIP-seq
MIRT758208	hsa-miR-3666	CLIP-seq
MIRT758209	hsa-miR-3668	CLIP-seq
MIRT758210	hsa-miR-3977	CLIP-seq
MIRT758211	hsa-miR-4276	CLIP-seq
MIRT758212	hsa-miR-4295	CLIP-seq
MIRT758213	hsa-miR-454	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	25063848, 30765471
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	9621516
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	22655043
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS	10196363
GO:0006879	Process	Intracellular iron ion homeostasis	IBA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	30765471
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
GO:0015232	Function	Heme transmembrane transporter activity	IEA
GO:0015232	Function	Heme transmembrane transporter activity	TAS	9621516
GO:0015886	Process	Heme transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	ISS
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0034755	Process	Iron ion transmembrane transport	IDA	17192393
GO:0034755	Process	Iron ion transmembrane transport	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS	9621516
GO:0042802	Function	Identical protein binding	IPI	30765471
GO:0042803	Function	Protein homodimerization activity	IDA	30765471
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070455	Process	Positive regulation of heme biosynthetic process	IEA
GO:0070455	Process	Positive regulation of heme biosynthetic process	IMP	30765471
GO:0070455	Process	Positive regulation of heme biosynthetic process	ISS
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0140466	Process	Iron-sulfur cluster export from the mitochondrion	IMP	33157103
GO:0140481	Function	ABC-type iron-sulfur cluster transporter activity	IMP	33157103
GO:1903331	Process	Positive regulation of iron-sulfur cluster assembly	IEA
GO:1903331	Process	Positive regulation of iron-sulfur cluster assembly	IMP	17192393
GO:1903331	Process	Positive regulation of iron-sulfur cluster assembly	ISS
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	ISS

Other IDs

• MIM: 300135
• HGNC: 48
• e!Ensembl: ENSG00000131269

Protein

• UniProt ID: O75027
• Protein name: Iron-sulfur clusters transporter ABCB7, mitochondrial (ATP-binding cassette sub-family B member 7, mitochondrial) (ATP-binding cassette transporter 7) (ABC transporter 7 protein)
• Protein function: Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and partici
• PDB: 7VGF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	140 → 424	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	488 → 637	ABC transporter	Domain

• Sequence:

  MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPES
  LKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKI
  IKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSD
  APNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGF
  HLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGT
  LGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFL
  KTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQL
  SLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFE
  YIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVS
  LESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDT
  QVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTS
  IFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKW
  EAKKENISKEEERKKLQEEIVNSVKGCGNCSC

• Sequence length: 752

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
Nonpapillary renal cell carcinoma	Likely pathogenic	rs762876355	RCV005939494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia, X-linked	Likely pathogenic	rs797044558	RCV000190539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked sideroblastic anemia with ataxia	Pathogenic; Likely pathogenic	rs515726147, rs72554634, rs80356714, rs80356713, rs762876355, rs1057518042	RCV000114380 RCV000012330 RCV000012331 RCV000012332 RCV004547420 RCV004584290 RCV000578445	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ABCB7-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC SPINOCEREBELLAR ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Likely benign	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIDEROBLASTIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic Anemia and Ataxia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	19692701, 23070040	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	18398482, 26242992, 34861039, 36028755	Associate	★☆☆☆☆ Found in Text Mining only
Anemia sideroblastic spinocerebellar ataxia	Sideroblastic anemia	Pubtator	11050011, 17192393, 18398482, 30765471	Associate	★☆☆☆☆ Found in Text Mining only
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	Anemia and spinocerebellar ataxia	BEFREE	10196363, 11843825, 22398176, 28577724		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	Anemia and spinocerebellar ataxia	CLINVAR_DG	10196363, 22398176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	Anemia and spinocerebellar ataxia	UNIPROT_DG	10196363, 11050011, 11843825, 22398176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	Anemia and spinocerebellar ataxia	GENOMICS_ENGLAND_DG	11050011, 11843825, 29787825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA	Anemia and spinocerebellar ataxia	CTD_human_DG	21326867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	11843825, 26242992	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	26242992	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28744157		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37905302	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	11843825, 26242992	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	26242992	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	26242992	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia	Congenital Cerebellar Ataxia	BEFREE	26242992		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31511561		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	35872023	Inhibit	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	BEFREE	31761138		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	27189384	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31511561		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	23481689		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	17192393, 30765471, 31511561		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	30765471	Inhibit	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	31511561		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28744157		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	33843278	Associate	★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	10196363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	17192393, 27211273	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25428262, 27211273		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27211273, 34861039, 36028755	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28577724		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	21380928, 23070040		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	LHGDN	18398482		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	21380928		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	11843825, 20481466, 26242992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic anemia	Sideroblastic Anemia	CTD_human_DG	16892088, 18637800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic anemia	Sideroblastic Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	16892088		★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	11050011, 16892088, 17192393, 17192398, 19046159, 20093295, 30765471		★☆☆☆☆ Found in Text Mining only
X-linked sideroblastic anemia and spinocerebellar ataxia	Sideroblastic Anemia And Spinocerebellar Ataxia, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations