XK (X-linked Kx blood group antigen, Kell and VPS13A binding protein)

Gene

• Entrez ID: 7504
• Gene name: X-linked Kx blood group antigen, Kell and VPS13A binding protein
• Gene symbol: XK
• Synonyms (NCBI Gene): KX, NA, NAC, X1k, XKR1
• Chromosome: X
• Chromosome location: Xp21.1
• Summary: This locus controls the synthesis of the Kell blood group `precursor substance` (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic s

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933690	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104894953	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104894954	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1556450491	A>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1602145991	G>A	Pathogenic	Splice donor variant
rs1602158863	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1602159120	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024667	hsa-miR-215-5p	Microarray	19074876
MIRT026742	hsa-miR-192-5p	Microarray	19074876
MIRT027860	hsa-miR-98-5p	Microarray	19088304
MIRT030081	hsa-miR-26b-5p	Microarray	19088304
MIRT044236	hsa-miR-29c-3p	CLASH	23622248
MIRT038931	hsa-miR-31-3p	CLASH	23622248
MIRT1495712	hsa-miR-1200	CLIP-seq
MIRT1495713	hsa-miR-1257	CLIP-seq
MIRT1495714	hsa-miR-1262	CLIP-seq
MIRT1495715	hsa-miR-1270	CLIP-seq
MIRT1495716	hsa-miR-1278	CLIP-seq
MIRT1495717	hsa-miR-1303	CLIP-seq
MIRT1495718	hsa-miR-139-5p	CLIP-seq
MIRT1495719	hsa-miR-140-5p	CLIP-seq
MIRT1495720	hsa-miR-1587	CLIP-seq
MIRT1495721	hsa-miR-216b	CLIP-seq
MIRT1495722	hsa-miR-3125	CLIP-seq
MIRT1495723	hsa-miR-3127-3p	CLIP-seq
MIRT1495724	hsa-miR-3140-5p	CLIP-seq
MIRT1495725	hsa-miR-338-3p	CLIP-seq
MIRT1495726	hsa-miR-340	CLIP-seq
MIRT1495727	hsa-miR-3545-5p	CLIP-seq
MIRT1495728	hsa-miR-3609	CLIP-seq
MIRT1495729	hsa-miR-3667-3p	CLIP-seq
MIRT1495730	hsa-miR-3675-3p	CLIP-seq
MIRT1495731	hsa-miR-3691-3p	CLIP-seq
MIRT1495732	hsa-miR-378g	CLIP-seq
MIRT1495733	hsa-miR-3908	CLIP-seq
MIRT1495734	hsa-miR-3916	CLIP-seq
MIRT1495735	hsa-miR-3925-3p	CLIP-seq
MIRT1495736	hsa-miR-4275	CLIP-seq
MIRT1495737	hsa-miR-4282	CLIP-seq
MIRT1495738	hsa-miR-4460	CLIP-seq
MIRT1495739	hsa-miR-4477a	CLIP-seq
MIRT1495740	hsa-miR-4492	CLIP-seq
MIRT1495741	hsa-miR-4498	CLIP-seq
MIRT1495742	hsa-miR-4520a-3p	CLIP-seq
MIRT1495743	hsa-miR-4528	CLIP-seq
MIRT1495744	hsa-miR-4530	CLIP-seq
MIRT1495745	hsa-miR-455-5p	CLIP-seq
MIRT1495746	hsa-miR-4656	CLIP-seq
MIRT1495747	hsa-miR-4659a-3p	CLIP-seq
MIRT1495748	hsa-miR-4659a-5p	CLIP-seq
MIRT1495749	hsa-miR-4659b-3p	CLIP-seq
MIRT1495750	hsa-miR-4659b-5p	CLIP-seq
MIRT1495751	hsa-miR-4666-5p	CLIP-seq
MIRT1495752	hsa-miR-4675	CLIP-seq
MIRT1495753	hsa-miR-4683	CLIP-seq
MIRT1495754	hsa-miR-4684-5p	CLIP-seq
MIRT1495755	hsa-miR-4701-3p	CLIP-seq
MIRT1495756	hsa-miR-4712-3p	CLIP-seq
MIRT1495757	hsa-miR-4715-5p	CLIP-seq
MIRT1495758	hsa-miR-4735-5p	CLIP-seq
MIRT1495759	hsa-miR-4741	CLIP-seq
MIRT1495760	hsa-miR-4747-3p	CLIP-seq
MIRT1495761	hsa-miR-4755-3p	CLIP-seq
MIRT1495762	hsa-miR-4762-3p	CLIP-seq
MIRT1495763	hsa-miR-4762-5p	CLIP-seq
MIRT1495764	hsa-miR-4764-3p	CLIP-seq
MIRT1495765	hsa-miR-4766-5p	CLIP-seq
MIRT1495766	hsa-miR-4780	CLIP-seq
MIRT1495767	hsa-miR-4790-3p	CLIP-seq
MIRT1495768	hsa-miR-548a-3p	CLIP-seq
MIRT1495769	hsa-miR-548ah	CLIP-seq
MIRT1495770	hsa-miR-548e	CLIP-seq
MIRT1495771	hsa-miR-548f	CLIP-seq
MIRT1495772	hsa-miR-548k	CLIP-seq
MIRT1495773	hsa-miR-548v	CLIP-seq
MIRT1495774	hsa-miR-582-5p	CLIP-seq
MIRT1495775	hsa-miR-586	CLIP-seq
MIRT1495776	hsa-miR-600	CLIP-seq
MIRT1495777	hsa-miR-620	CLIP-seq
MIRT1495778	hsa-miR-626	CLIP-seq
MIRT1495779	hsa-miR-645	CLIP-seq
MIRT1495780	hsa-miR-656	CLIP-seq
MIRT1495781	hsa-miR-762	CLIP-seq
MIRT1495782	hsa-miR-766	CLIP-seq
MIRT1495712	hsa-miR-1200	CLIP-seq
MIRT1495713	hsa-miR-1257	CLIP-seq
MIRT2149307	hsa-miR-154	CLIP-seq
MIRT1495723	hsa-miR-3127-3p	CLIP-seq
MIRT2149308	hsa-miR-3127-5p	CLIP-seq
MIRT1495724	hsa-miR-3140-5p	CLIP-seq
MIRT1495728	hsa-miR-3609	CLIP-seq
MIRT2149309	hsa-miR-3613-3p	CLIP-seq
MIRT1495729	hsa-miR-3667-3p	CLIP-seq
MIRT2149310	hsa-miR-4307	CLIP-seq
MIRT2149311	hsa-miR-4330	CLIP-seq
MIRT1495751	hsa-miR-4666-5p	CLIP-seq
MIRT2149312	hsa-miR-4718	CLIP-seq
MIRT2149313	hsa-miR-4742-3p	CLIP-seq
MIRT1495765	hsa-miR-4766-5p	CLIP-seq
MIRT1495767	hsa-miR-4790-3p	CLIP-seq
MIRT2149314	hsa-miR-514	CLIP-seq
MIRT2149315	hsa-miR-514b-3p	CLIP-seq
MIRT1495769	hsa-miR-548ah	CLIP-seq
MIRT2369736	hsa-miR-197	CLIP-seq
MIRT2369737	hsa-miR-3158-3p	CLIP-seq
MIRT1495736	hsa-miR-4275	CLIP-seq
MIRT1495737	hsa-miR-4282	CLIP-seq
MIRT2149310	hsa-miR-4307	CLIP-seq
MIRT2369738	hsa-miR-4685-5p	CLIP-seq
MIRT2369739	hsa-miR-5096	CLIP-seq
MIRT2397073	hsa-miR-193a-5p	CLIP-seq
MIRT2397074	hsa-miR-3064-3p	CLIP-seq
MIRT1495731	hsa-miR-3691-3p	CLIP-seq
MIRT1495747	hsa-miR-4659a-3p	CLIP-seq
MIRT1495748	hsa-miR-4659a-5p	CLIP-seq
MIRT1495749	hsa-miR-4659b-3p	CLIP-seq
MIRT1495750	hsa-miR-4659b-5p	CLIP-seq
MIRT2397075	hsa-miR-4715-3p	CLIP-seq
MIRT2397076	hsa-miR-4776-3p	CLIP-seq
MIRT2466341	hsa-miR-4290	CLIP-seq
MIRT2466342	hsa-miR-4687-5p	CLIP-seq
MIRT2466343	hsa-miR-548aa	CLIP-seq
MIRT2663371	hsa-let-7a	CLIP-seq
MIRT2663372	hsa-let-7b	CLIP-seq
MIRT2663373	hsa-let-7c	CLIP-seq
MIRT2663374	hsa-let-7d	CLIP-seq
MIRT2663375	hsa-let-7e	CLIP-seq
MIRT2663376	hsa-let-7f	CLIP-seq
MIRT2663377	hsa-let-7g	CLIP-seq
MIRT2663378	hsa-let-7i	CLIP-seq
MIRT2663379	hsa-miR-202	CLIP-seq
MIRT2663380	hsa-miR-3148	CLIP-seq
MIRT2663381	hsa-miR-3978	CLIP-seq
MIRT2149311	hsa-miR-4330	CLIP-seq
MIRT2663382	hsa-miR-4458	CLIP-seq
MIRT2663383	hsa-miR-4494	CLIP-seq
MIRT2663384	hsa-miR-4500	CLIP-seq
MIRT2149312	hsa-miR-4718	CLIP-seq
MIRT2149313	hsa-miR-4742-3p	CLIP-seq
MIRT2663385	hsa-miR-499a-5p	CLIP-seq
MIRT2663386	hsa-miR-513a-3p	CLIP-seq
MIRT2149314	hsa-miR-514	CLIP-seq
MIRT2149315	hsa-miR-514b-3p	CLIP-seq
MIRT2663387	hsa-miR-889	CLIP-seq
MIRT2663388	hsa-miR-98	CLIP-seq
MIRT2149312	hsa-miR-4718	CLIP-seq
MIRT2149313	hsa-miR-4742-3p	CLIP-seq
MIRT2149314	hsa-miR-514	CLIP-seq
MIRT2149315	hsa-miR-514b-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	7737196
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	32845802
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	9593744, 32845802
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006865	Process	Amino acid transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0008361	Process	Regulation of cell size	IEA
GO:0010961	Process	Intracellular magnesium ion homeostasis	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8004674, 9647734
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	32845802
GO:0031133	Process	Regulation of axon diameter	IEA
GO:0042552	Process	Myelination	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA

Other IDs

• MIM: 314850
• HGNC: 12811
• e!Ensembl: ENSG00000047597

Protein

• UniProt ID: P51811
• Protein name: Endoplasmic reticulum membrane adapter protein XK (Kell complex 37 kDa component) (Kx antigen) (Membrane transport protein XK) (XK-related protein 1)
• Protein function: Recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09815	XK-related	5 → 376	XK-related protein	Family

• Tissue specificity: TISSUE SPECIFICITY: High levels in skeletal muscle, heart, brain, and pancreas; low levels in placenta, lung, liver, and kidney. {ECO:0000269|PubMed:8004674}.
• Sequence:

  MKFPASVLASVFLFVAETTAALSLSSTYRSGGDRMWQALTLLFSLLPCALVQLTLLFVHR
  DLSRDRPLVLLLHLLQLGPLFRCFEVFCIYFQSGNNEEPYVSITKKRQMPKNGLSEEIEK
  EVGQAEGKLITHRSAFSRASVIQAFLGSAPQLTLQLYISVMQQDVTVGRSLLMTISLLSI
  VYGALRCNILAIKIKYDEYEVKVKPLAYVCIFLWRSFEIATRVVVLVLFTSVLKTWVVVI
  ILINFFSFFLYPWILFWCSGSPFPENIEKALSRVGTTIVLCFLTLLYTGINMFCWSAVQL
  KIDSPDLISKSHNWYQLLVYYMIRFIENAILLLLWYLFKTDIYMYVCAPLLVLQLLIGYC
  TAILFMLVFYQFFHPCKKLFSSSVSEGFQRWLRCFCWACRQQKPCEPIGKEDLQSSRDRD
  ETPSSSKTSPEPGQFLNAEDLCSA

• Sequence length: 444

Pathways

Reactome:

Peptide ligand-binding receptors

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
Elevated circulating creatine kinase concentration	Likely pathogenic	rs2519163494	RCV003127219	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
McLeod neuroacanthocytosis syndrome	Likely pathogenic; Pathogenic	rs2146834483, rs1602145991, rs1602158863, rs1602159120, rs28933690, rs2146834690, rs104894953, rs104894954	RCV001730037 RCV000010418 RCV000010419 RCV000010421 RCV000010422 RCV000010423 RCV000010424 RCV000010425	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XK-related disorder	Pathogenic	rs868990544	RCV003901938	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEMATOLOGIC DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGICAL DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16166335		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	30349052		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	7530877		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28479265		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28479265		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10720201		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	CTD_human_DG	11261514		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	30218151		★☆☆☆☆ Found in Text Mining only
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	BEFREE	10343080, 31319236		★☆☆☆☆ Found in Text Mining only
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	GENOMICS_ENGLAND_DG	11761473		★☆☆☆☆ Found in Text Mining only
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	UNIPROT_DG	11761473, 11961232, 12823753		★☆☆☆☆ Found in Text Mining only
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23103368, 30285668, 30539868, 31565486, 31684807		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	29255249		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29255249		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	28441068		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	27485363		★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	CTD_human_DG	11761473, 8619554		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	1007158		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28407688		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30639279		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31323271		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31323271		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	27635027, 29136005		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	27635027, 29136005		★☆☆☆☆ Found in Text Mining only
Etat Marbre	Status marmoratus	CTD_human_DG	11261514		★☆☆☆☆ Found in Text Mining only
Foley-Denny-Brown Syndrome	Benign fasciculation-cramp syndrome	CTD_human_DG	8004674, 8619554		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	1007158		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	CTD_human_DG	8004674, 8619554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertyrosinemia	Hypertyrosinemia	BEFREE	28547180		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29462796		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28441449		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30559726		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31111056		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23103368, 30285668, 30539868, 31565486, 31684807		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	27635027, 29136005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31060118		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23172369		★☆☆☆☆ Found in Text Mining only
McLeod neuroacanthocytosis syndrome	McLeod Neuroacanthocytosis Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mental Depression	Mental Depression	BEFREE	30639279		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	CTD_human_DG	11261514		★☆☆☆☆ Found in Text Mining only
Mental Disorders, Severe	Mental Disorders	CTD_human_DG	11261514		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	GENOMICS_ENGLAND_DG	19377476		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	31319236		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	29479032		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CTD_human_DG	11261514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18385754, 29428725		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16166335, 21641992, 23103368, 24220933, 27090210, 27635027, 28334858, 29587665, 31448485, 31600220, 31844921		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	31111056		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28734998, 9862428		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	9862428		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	CTD_human_DG	8004674, 8619554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24326616, 29807114, 29857117		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oppenheim`s Disease	Oppenheim`s Disease	CTD_human_DG	8004674, 8619554		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31060118		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30112966		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	11761473		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Personality Disorders	Personality Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28698075		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28814068		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	30838443		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	7530877		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	30704959		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27130464, 28334858		★☆☆☆☆ Found in Text Mining only
Tyrosine Transaminase Deficiency Disease	Tyrosinemia	BEFREE	27924409		★☆☆☆☆ Found in Text Mining only
Tyrosinemias	Tyrosinemia	BEFREE	28547180		★☆☆☆☆ Found in Text Mining only