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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23218
Gene name	Neurobeachin like 2
Gene symbol	NBEAL2
Synonyms (NCBI Gene)	BDPLT4GPS
Chromosome	3
Chromosome location	3p21.31
Summary	The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSe

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144664865	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs201373710	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs372277612	C>G	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs377326649	G>A,C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs387907112	C>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs387907113	T>C	Pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs387907114	A>T	Pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs387907115	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs557640338	->AGGT	Conflicting-interpretations-of-pathogenicity	Splice donor variant, intron variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs762258197	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs794726682	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs794726683	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041677	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1172581672	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic upstream transcript variant
rs1235183015	T>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1349443190	T>G	Likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1553659758	G>A	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1553663498	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1575592157	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, intron variant
rs1575602690	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1575619957	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1575623114	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1575623184	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1575628744	G>C	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs1575629721	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048906	hsa-miR-93-5p	CLASH	23622248
MIRT1174758	hsa-miR-106a	CLIP-seq
MIRT1174759	hsa-miR-106b	CLIP-seq
MIRT1174760	hsa-miR-1207-5p	CLIP-seq
MIRT1174761	hsa-miR-125a-5p	CLIP-seq
MIRT1174762	hsa-miR-125b	CLIP-seq
MIRT1174763	hsa-miR-1285	CLIP-seq
MIRT1174764	hsa-miR-17	CLIP-seq
MIRT1174765	hsa-miR-19a	CLIP-seq
MIRT1174766	hsa-miR-19b	CLIP-seq
MIRT1174767	hsa-miR-20a	CLIP-seq
MIRT1174768	hsa-miR-20b	CLIP-seq
MIRT1174769	hsa-miR-296-5p	CLIP-seq
MIRT1174770	hsa-miR-302a	CLIP-seq
MIRT1174771	hsa-miR-302b	CLIP-seq
MIRT1174772	hsa-miR-302c	CLIP-seq
MIRT1174773	hsa-miR-302d	CLIP-seq
MIRT1174774	hsa-miR-302e	CLIP-seq
MIRT1174775	hsa-miR-3160-3p	CLIP-seq
MIRT1174776	hsa-miR-3187-5p	CLIP-seq
MIRT1174777	hsa-miR-372	CLIP-seq
MIRT1174778	hsa-miR-373	CLIP-seq
MIRT1174779	hsa-miR-4258	CLIP-seq
MIRT1174780	hsa-miR-4319	CLIP-seq
MIRT1174781	hsa-miR-4487	CLIP-seq
MIRT1174782	hsa-miR-4494	CLIP-seq
MIRT1174783	hsa-miR-4707-3p	CLIP-seq
MIRT1174784	hsa-miR-4732-3p	CLIP-seq
MIRT1174785	hsa-miR-4763-3p	CLIP-seq
MIRT1174786	hsa-miR-512-3p	CLIP-seq
MIRT1174787	hsa-miR-519d	CLIP-seq
MIRT1174788	hsa-miR-520a-3p	CLIP-seq
MIRT1174789	hsa-miR-520b	CLIP-seq
MIRT1174790	hsa-miR-520c-3p	CLIP-seq
MIRT1174791	hsa-miR-520d-3p	CLIP-seq
MIRT1174792	hsa-miR-520e	CLIP-seq
MIRT1174793	hsa-miR-541	CLIP-seq
MIRT1174794	hsa-miR-548t	CLIP-seq
MIRT1174795	hsa-miR-558	CLIP-seq
MIRT1174796	hsa-miR-612	CLIP-seq
MIRT1174797	hsa-miR-654-5p	CLIP-seq
MIRT1174798	hsa-miR-670	CLIP-seq
MIRT1174799	hsa-miR-671-5p	CLIP-seq
MIRT1174800	hsa-miR-890	CLIP-seq
MIRT1174801	hsa-miR-93	CLIP-seq
MIRT2279717	hsa-miR-3184	CLIP-seq
MIRT2279718	hsa-miR-423-5p	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29187380
GO:0005783	Component	Endoplasmic reticulum	IDA	21765412
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0008104	Process	Intracellular protein localization	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0019901	Function	Protein kinase binding	IBA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030220	Process	Platelet formation	IMP	21765411
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
614169	31928	ENSG00000160796

Q6ZNJ1

Protein name

Neurobeachin-like protein 2

Protein function

Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15787	DUF4704	872 → 1151	Domain of unknown function (DUF4704)	Family
PF16057	DUF4800	1587 → 1861		Family
PF14844	PH_BEACH	1926 → 2011	PH domain associated with Beige/BEACH	Domain
PF02138	Beach	2066 → 2345	Beige/BEACH domain	Family
PF00400	WD40	2492 → 2530	WD domain, G-beta repeat	Repeat
PF00400	WD40	2543 → 2580	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in megakaryocytes. {ECO:0000269|PubMed:21765411}.

Sequence

MAASERLYELWLLYYAQKDLGYLQQWLKAFVGAFKKSISLSSLEPRRPEEAGAEVPLLPL
DELHVLAEQLHQADLEQALLLLKLFIILCRNLENIEAGRGQVLVPRVLALLTKLVAELKG
CPPPQGRGTQLENVALHALLLCEGLFDPYQTWRRQRSGEVISSKEKSKYKFPPAALPQEF
SAFFQESLQNADHLPPILLLRLIHLFCAVLAGGKENGQMAVSDGSVKGLLSVVRGWSRGP
APDPCLVPLALEALVGAVHVLHASRAPPRGPELRALLESYFHVLNADWPAGLSSGPEEAL
VTLRVSMLDAIPMMLACEDRPVLQATFLSNNCFEHLTRLIQNSKLYLQSRAPPEGDSDLA
TRLLTEPDVQKVLDQDTDAIAVHVVRVLTCIMSDSPSAKEVFKERIGYPHLQEVLQSHGP
PTHRLLQELLNMAVEGDHSMCPPPPIRNEQPVLVLAQWLPSLPTAELRLFLAQRLRWLCD
SCPASRATCVQAGLVGCLLETLSTGLALEARCQEQLLALLQALGRVSIRPMELRHLLRPR
PGLDSEPGGAEAGKARHAGAVIRTLSGMARHQGPARALRYFDLTPSMAGIMVPPVQRWPG
PGFTFHAWLCLHPMDTAPTPAPTRPLQRKQLYSFFTSSGSGFEAFFTAAGTLVVAVCTRK
EYLTMSLPEVSFADSAWHCVAIVHVPGRRPFSQNLVHVYKDGHLVKTAPLRCPSLSEPFS
SCCIGSAGYRTTTTTTGLPTPPVPATLAYTHPALTRSQSVPASTGLGWGSGLVAPLQEGS
IDSTLAGTQDTRWGSPTSLEGELGAVAIFHEALQATALRTLCTLGPNETAPFKPEGELHE
LSTRLLLHYSPQACKNNICLDLSPSHGLDGRLTGHRVETWDVKDVVNCVGGMGALLPLLE
RVAAQPKEAEAGPAETHDLVGPELTSGHNTQGLVLPLGKSSEERMERNAVAAFLLMLRNF
LQGHMVNQESLVQCQGPAIIGALLRKVPSWAMDMNVLMSAQLLMEQVAAEGSGPLLYLLY
QHLLFNFHLWTLSDFAVRLGHIQYMSSIVREHRQKLRKKYGVQFILDALRTHYSPQRERP
LAADDLRTVQTSLLGLAREFLVRSLSADDVQVTQTMLSFLAATGDDGQAVGALDLLLALL
HGSLVQESLAVFLLEPGNLEVLLALLVRPGSLPLLPDRVCKILRRLQQNERLPERSRQRL
RLRECGLQGLVACLPEGTVSPQLCQGLYKLFLGADCLNLSDLLAVVQLSLQADLSVRLDI
CRQLFHLIYGQPDVVRLLARQAGWQDVLTRLYVLEAATAGSPPPSSPESPTSPKPAPPKP
PTESPAEPSDVFLPSEAPCPDPDGFYHALSPFCTPFDLGLERSSVGSGNTAGGGGSSGTL
TPASQPGTPSPLDGPRPFPAAPGRHSSSLSNVLEDGSLPEPTISGDDTSNTSNPQQTSEE
ELCNLLTNVLFSVTWRGVEGSDEAAWRERGQVFSVLTQLGASATLVRPPDCIKRSLLEMM
LESALTDIKEAPVGVLASLTQQALWLLRLLQDFLCAEGHGNQELWSEKLFEGVCSLLDRL
GAWPHLANGTADLREMAQIGLRLVLGYILLEDPQLHAQAYVRLHMLLQTAVPARREEACY
VLSKLEAALGRVLNTSSLESATDEAGSPLAAAAAAAAAERCSWLVPLVRTLLDRAYEPLG
LQWGLPSLPPTNGSPTFFEDFQAFCATPEWRHFIDKQVQPTMSQFEMDTYAKSHDLMSGF
WNACYDMLMSSGQRRQWERAQSRRAFQELVLEPAQRRARLEGLRYTAVLKQQATQHSMAL
LHWGALWRQLASPCGAWALRDTPIPRWKLSSAETYSRMRLKLVPNHHFDPHLEASALRDN
LGEVPLTPTEEASLPLAVTKEAKVSTPPELLQEDQLGEDELAELETPMEAAELDEQREKL
VLSAECQLVTVVAVVPGLLEVTTQNVYFYDGSTERVETEEGIGYDFRRPLAQLREVHLRR
FNLRRSALELFFIDQANYFLNFPCKVGTTPVSSPSQTPRPQPGPIPPHTQVRNQVYSWLL
RLRPPSQGYLSSRSPQEMLRASGLTQKWVQREISNFEYLMQLNTIAGRTYNDLSQYPVFP
WVLQDYVSPTLDLSNPAVFRDLSKPIGVVNPKHAQLVREKYESFEDPAGTIDKFHYGTHY
SNAAGVMHYLIRVEPFTSLHVQLQSGRFDCSDRQFHSVAAAWQARLESPADVKELIPEFF
YFPDFLENQNGFDLGCLQLTNEKVGDVVLPPWASSPEDFIQQHRQALESEYVSAHLHEWI
DLIFGYKQRGPAAEEALNVFYYCTYEGAVDLDHVTDERERKALEGIISNFGQTPCQLLKE
PHPTRLSAEEAAHRLARLDTNSPSIFQHLDELKAFFAEVVSDGVPLVLALVPHRQPHSFI
TQGSPDLLVTVSASGLLGTHSWLPYDRNISNYFSFSKDPTMGSHKTQRLLSGPWVPGSGV
SGQALAVAPDGKLLFSGGHWDGSLRVTALPRGKLLSQLSCHLDVVTCLALDTCGIYLISG
SRDTTCMVWRLLHQGGLSVGLAPKPVQVLYGHGAAVSCVAISTELDMAVSGSEDGTVIIH
TVRRGQFVAALRPLGATFPGPIFHLALGSEGQIVVQSSAWERPGAQVTYSLHLYSVNGKL
RASLPLAEQPTALTVTEDFVLLGTAQCALHILQLNTLLPAAPPLPMKVAIRSVAVTKERS
HVLVGLEDGKLIVVVAGQPSEVRSSQFARKLWRSSRRISQVSSGETEYNPTEAR

Sequence length

2754

Interactions

View interactions

	Reactome
			Neutrophil degranulation

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Pathogenic	rs1285731171	RCV001270512	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gray platelet syndrome	Likely pathogenic; Pathogenic	rs2107453711, rs2107416290, rs2107346255, rs2107445568, rs2107337553, rs2107448208, rs948953674, rs2107437335, rs1339171276, rs2107416663, rs1341020147, rs2107413869, rs2037415464, rs1233482159, rs2545337256 View all (33 more)	RCV001543680 RCV001731122 RCV001823792 RCV002245440 RCV002245443 View all (43 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs1349443190	RCV005912364	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NBEAL2-related disorder	Likely pathogenic; Pathogenic	rs2545271813, rs2545341177, rs1553663498	RCV003406108 RCV003419135 RCV003403169	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic adenocarcinoma	Likely pathogenic; Pathogenic	rs763842878	RCV005909283	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Pathogenic	rs1285731171	RCV001270512	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
Acute myeloid leukemia	Likely benign; 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
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ 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
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (64)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	31595030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28258049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28258049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28606699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28606699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	37349339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	33990592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	25258341, 28783043, 31228350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	20709904, 31348050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31462219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18794066, 30481755, 30662523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	23100277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30832581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28258049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29843435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26154605, 26240488, 31064277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disturbance in mood	Mood Disorder	BEFREE	31423838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	GENOMICS_ENGLAND_DG	20709904, 21765411		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	21765411, 21765412, 21765413, 23100277, 25258341, 25806575, 26950939, 26971401, 26987485, 28504079, 28587255, 28783043, 28887433, 29187380, 29570678 View all (6 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gray Platelet Syndrome	Gray Platelet Syndrome	CLINGEN_DG	21765411, 21765412, 21765413, 23100277, 23861251, 26987485		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gray Platelet Syndrome	Gray Platelet Syndrome	UNIPROT_DG	21765411, 21765412, 21765413		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gray Platelet Syndrome	Gray Platelet Syndrome	ORPHANET_DG	21765411, 21765412		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gray Platelet Syndrome	Gray Platelet Syndrome	CTD_human_DG	21765411, 21765412, 21765413		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gray platelet syndrome	Gray Platelet Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	21765412, 21765413, 23100277, 25806575, 26987485, 28082341, 28504079, 32384141, 32693407, 34237592, 37349339, 39465716	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gray Platelet Syndrome	Gray Platelet Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30357948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	28504079, 37349339, 39465716	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	BEFREE	30935919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31064277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	18794066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	38107722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29754584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	33729517, 39238827	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26384344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28828280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28828280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28828280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28828280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	23100277, 26950939, 29869935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27121323, 28454985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25258341, 28837809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28258049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	31362286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	25258341, 31228350		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	29843435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28676731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27121323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	28676731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25422053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23202957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Platelet alpha-Granule Deficiency	Platelet Alpha-Granule Deficiency	ORPHANET_DG	21765411, 21765412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Platelet alpha-Granule Deficiency	Platelet Alpha-Granule Deficiency	CLINGEN_DG	21765411, 21765412, 21765413, 23100277, 23861251, 26987485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Platelet alpha-Granule Deficiency	Platelet Alpha-Granule Deficiency	CTD_human_DG	21765411, 21765412, 21765413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30832581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	25258341, 31228350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27121323, 28454985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29930006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	32693407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	37349339	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 1	Thrombocytopenia	Pubtator	23100277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NBEAL2 (neurobeachin like 2)