ALAS2 (5'-aminolevulinate synthase 2)

Gene

• Entrez ID: 212
• Gene name: 5'-aminolevulinate synthase 2
• Gene symbol: ALAS2
• Synonyms (NCBI Gene): ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA
• Chromosome: X
• Chromosome location: Xp11.21
• Summary: The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alterna

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935484	T>A	Pathogenic	Coding sequence variant, missense variant
rs137852299	A>T	Pathogenic	Coding sequence variant, missense variant
rs137852300	G>C	Pathogenic	Coding sequence variant, missense variant
rs137852301	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852302	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852303	T>G	Pathogenic	Coding sequence variant, missense variant
rs137852304	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852305	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852307	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852308	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852309	G>C	Pathogenic	Coding sequence variant, missense variant
rs137852310	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852311	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs150055592	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs201062903	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs863223901	C>T	Pathogenic	Missense variant, coding sequence variant
rs863223902	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs863223903	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs863223904	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057522832	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1557248142	G>T	Pathogenic	Missense variant, coding sequence variant

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Unknown	23935018
HIF1A	Activation	21207956

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	16234850
GO:0003870	Function	5-aminolevulinate synthase activity	IBA
GO:0003870	Function	5-aminolevulinate synthase activity	IDA	14643893, 32499479
GO:0003870	Function	5-aminolevulinate synthase activity	IEA
GO:0003870	Function	5-aminolevulinate synthase activity	IMP	21252495, 21309041, 21653323
GO:0005515	Function	Protein binding	IPI	10727444, 14643893, 16234850, 25416956, 25910212, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	10727444, 14643893
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	14643893
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006778	Process	Porphyrin-containing compound metabolic process	IEA
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IDA	32499479
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IBA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	ISS
GO:0006783	Process	Heme biosynthetic process	NAS	14643893
GO:0006785	Process	Heme B biosynthetic process	IDA	2050125
GO:0006879	Process	Intracellular iron ion homeostasis	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	ISS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030218	Process	Erythrocyte differentiation	NAS	2050125
GO:0032364	Process	Intracellular oxygen homeostasis	NAS	16234850
GO:0033014	Process	Tetrapyrrole biosynthetic process	IEA
GO:0042541	Process	Hemoglobin biosynthetic process	IBA
GO:0042541	Process	Hemoglobin biosynthetic process	IEA
GO:0042541	Process	Hemoglobin biosynthetic process	ISS
GO:0048821	Process	Erythrocyte development	IBA

Other IDs

• MIM: 301300
• HGNC: 397
• e!Ensembl: ENSG00000158578

Protein

• UniProt ID: P22557
• Protein name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial (ALAS-E) (EC 2.3.1.37) (5-aminolevulinic acid synthase 2) (Delta-ALA synthase 2) (Delta-aminolevulinate synthase 2)
• Protein function: Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products (PubMed:14643893, PubMed:21252495, PubMed:21309041, PubMed:21653323, PubMed:32499479
• PDB: 5QQQ, 5QQR, 5QQS, 5QQT, 5QQU, 5QQV, 5QQW, 5QQX, 5QQY, 5QQZ, 5QR0, 5QR1, 5QR2, 5QR3, 5QR4, 5QR5, 5QR6, 5QR7, 5QR8, 5QR9, 5QRA, 5QRB, 5QRC, 5QRD, 5QRE, 5QT3, 6HRH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09029	Preseq_ALAS	52 → 100	5-aminolevulinate synthase presequence	Domain
  PF00155	Aminotran_1_2	189 → 536	Aminotransferase class I and II	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Erythroid-specific. {ECO:0000269|PubMed:14643893, ECO:0000269|PubMed:2050125}.; TISSUE SPECIFICITY: [Isoform 2]: Erythroid-specific. {ECO:0000269|PubMed:14643893}.; TISSUE SPECIFICITY: [Isoform 3]: Erythroid-specific. {ECO
• Sequence:

  MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGG
  DSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQ
  EQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQH
  FSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELE
  QELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKF
  VFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVH
  AVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFT
  TSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRV
  GNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAW
  TAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA

• Sequence length: 587

Pathways

KEGG:

Glycine, serine and threonine metabolism
Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors

Reactome:

Heme biosynthesis

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
ALAS2-related disorder	Pathogenic	rs137852311	RCV004730841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic adenocarcinoma	Pathogenic	rs863223900	RCV005940001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sideroblastic anemia 1, late-onset	Pathogenic; Likely pathogenic	rs137852303, rs137852304	RCV000011218 RCV000011219	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked erythropoietic protoporphyria	Likely pathogenic; Pathogenic	rs387906472, rs387906473, rs397514730, rs879255567	RCV000011228 RCV000011229 RCV000054488 RCV000054489	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked sideroblastic anemia 1	Likely pathogenic; Pathogenic	rs2146722839, rs2519597816, rs137852299, rs137852300, rs137852301, rs137852302, rs137852304, rs28935484, rs137852305, rs137852306, rs137852307, rs137852308, rs137852309, rs137852310, rs137852311, rs2519592343, rs863223900, rs1557248142, rs1935671225, rs2146715075	RCV001376189 RCV003226058 RCV000011214 RCV000011215 RCV000011216 RCV000011217 RCV001729346 RCV003322588 RCV000011221 RCV000011222 RCV000011223 RCV000011224 RCV000011225 RCV000011227 RCV000011230 RCV000011231 RCV004017207 RCV005402349 RCV000626482 RCV001352676 RCV001534614	★★★★★ 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
ANEMIA, SIDEROBLASTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, SIDEROBLASTIC, 1, LATE-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 36	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROPOIETIC PROTOPORPHYRIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOCHROMATOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA, ERYTHROPOIETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIDEROBLASTIC ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic Anemia and Ataxia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SIDEROBLASTIC ANEMIA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	12393745, 23935018		★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	23650938		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	15885606, 16735131, 17192393, 18760763, 9226183		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	7949148	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	31338833	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	37697358	Associate	★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	38360212	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Macrocytic	Macrocytic anemia	Pubtator	25705881	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	16527891	Stimulate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	19692701, 7560104	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	17508724	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Sideroblastic anemia	Pubtator	10577279, 12531813, 1577484, 19731322, 22983749, 23935018, 25985931, 29908199, 33858445, 35637209, 36028755, 38360212	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	BEFREE	9372069		★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	15885606		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	1577484	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	17192398		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	11110715, 21750082	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26231844, 31823667		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36769209	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	19731322	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	25450364, 31338833, 9806542		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	40229714	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23500306, 26231844		★☆☆☆☆ Found in Text Mining only
Cystathionine beta-Synthase Deficiency Disease	Cystathionine Beta-Synthase Deficiency Disease	BEFREE	31551410		★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	30391163, 30678654		★☆☆☆☆ Found in Text Mining only
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	BEFREE	18760763, 20105171, 22791288, 23233556, 23364466, 30454868, 30737140, 31076252, 31326287, 31395332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	34876579	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23500306, 26231844		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	23500306	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	10029606	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemochromatosis	Hemochromatosis	LHGDN	16446107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemoglobinopathies	Hemoglobinopathy	BEFREE	15885606		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	18823803	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	18823803	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	10029606, 16446107		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19187226	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23500306	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31618209	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24039113		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	10029606, 15885606, 16446107, 16540354, 18637800, 18760763, 18823803, 19066423, 28772256		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	10029606, 18760763, 18823803	Associate	★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	19066423, 31338833, 9372069		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	26231844		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	9133617	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16540354		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	18760763, 23348515	Associate	★☆☆☆☆ Found in Text Mining only
Macrocytic dyserythropoietic anemia	Macrocytic anemia	BEFREE	25705881		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	16969374		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	BEFREE	16969374		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28074617		★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis VI	Mucopolysaccharidosis	BEFREE	10036316, 1550123, 17672828, 22405600, 8541342		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25428262		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	29885660		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	40229714	Associate	★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28421867		★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	23650938	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Erythropoietic	Porphyria	Pubtator	21653323	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	BEFREE	21653323, 22791288, 23348515, 30454868, 30678654		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyrias	Porphyria	Pubtator	18760763, 30391163, 32499479	Associate	★☆☆☆☆ Found in Text Mining only
Protoporphyria Erythropoietic	Erythropoietic protoporphyria	Pubtator	23364466, 30391163, 31076252, 36898083	Associate	★☆☆☆☆ Found in Text Mining only
Protoporphyria, Erythropoietic, X-Linked Dominant	Protoporphyria, erythropoietic	GENOMICS_ENGLAND_DG	10029606, 23263862, 29903433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Protoporphyria, Erythropoietic, X-Linked Dominant	Protoporphyria, erythropoietic	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Protoporphyria, Erythropoietic, X-Linked Dominant	Protoporphyria, erythropoietic	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	28421867		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	20808962	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25407108	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	16527891, 19692701		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	7560104		★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	BEFREE	10444183, 12382202, 1577484, 16446107, 16540354, 17192398, 20848343, 21252495, 21309041, 21393332, 28731922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic anemia	Sideroblastic Anemia	LHGDN	12031592, 12663458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic anemia	Sideroblastic Anemia	CTD_human_DG	16716198, 16892088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic anemia	Sideroblastic Anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sideroblastic anemia	Sideroblastic Anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Central	Sleep Apnea	BEFREE	25450364, 31338833, 9806542		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	40229714	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	11110715		★☆☆☆☆ Found in Text Mining only
X-linked erythropoietic protoporphyria	Erythropoietic Protoporphyria, X-Linked	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	BEFREE	10029606, 10582344, 11050011, 11110715, 12031592, 12382202, 12393718, 12531813, 12663458, 1301172, 16735131, 17192393, 17192398, 18760763, 19046159, 19066423, 19731322, 19786205, 20848343, 21309041, 21653323, 22740690, 22983749, 24166784, 25547425, 26637696, 28123038, 28644307, 28731922, 29908199, 30678654, 30737140, 31326287, 7560104, 7705839, 7912287, 7949148, 9226183, 9542324, 9806542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	UNIPROT_DG	10029606, 10577279, 12031592, 12393718, 1570328, 19731322, 21252495, 21309041, 8107717, 9858242		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	GENOMICS_ENGLAND_DG	10029606, 23263862, 29903433		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	CTD_human_DG	18637800		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	ORPHANET_DG	21309041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked sideroblastic anemia	Sideroblastic Anemia, X-Linked	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations