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	51594
Gene name	NBAS subunit of NRZ tethering complex
Gene symbol	NBAS
Synonyms (NCBI Gene)	ILFS2NAGSOPH
Chromosome	2
Chromosome location	2p24.3
Summary	This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic

Show/Hide all (31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75566418	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs140256463	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs143212851	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs143724414	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs199717686	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201084909	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368085185	G>A	Pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs368196005	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs369698072	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs370526257	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs748880753	T>C,G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs759315662	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs759960319	G>A,C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, stop gained
rs761330483	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs764164808	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs770446752	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs776597537	C>G,T	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs776797592	T>-,TT	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs796052121	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs796065037	TCA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, inframe deletion
rs796065038	GAG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, inframe deletion
rs1064795199	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1064795471	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1085307944	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131692171	G>A	Pathogenic	Non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1278049478	G>A,C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1553308501	A>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553348090	T>C	Likely-pathogenic	Splice acceptor variant
rs1553367857	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1572903776	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1573008071	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440142	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440142	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT1174722	hsa-miR-4434	CLIP-seq
MIRT1174723	hsa-miR-4516	CLIP-seq
MIRT1174724	hsa-miR-4531	CLIP-seq
MIRT1174725	hsa-miR-4643	CLIP-seq
MIRT1174726	hsa-miR-466	CLIP-seq
MIRT1174727	hsa-miR-4789-3p	CLIP-seq
MIRT2050546	hsa-miR-4328	CLIP-seq
MIRT2050547	hsa-miR-582-5p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0000149	Function	SNARE binding	IDA	19369418
GO:0000956	Process	Nuclear-transcribed mRNA catabolic process	IMP	23828042
GO:0005515	Function	Protein binding	IPI	29929043
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	19369418
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	19369418
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	NAS	15029241
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0070939	Component	Dsl1/NZR complex	IBA
GO:0070939	Component	Dsl1/NZR complex	IDA	20462495
GO:0070939	Component	Dsl1/NZR complex	IPI	20462495
GO:2000623	Process	Negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	23828042

MIM	HGNC	e!Ensembl
608025	15625	ENSG00000151779

A2RRP1

Protein name

NBAS subunit of NRZ tethering complex (Neuroblastoma-amplified gene protein) (Neuroblastoma-amplified sequence)

Protein function

Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418). Required for normal em

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15492	Nbas_N	90 → 371	Neuroblastoma-amplified sequence, N terminal	Family
PF08314	Sec39	726 → 1054	Secretory pathway protein Sec39	Family
PF08314	Sec39	1014 → 1376	Secretory pathway protein Sec39	Family

Tissue specificity

TISSUE SPECIFICITY: Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-m

Sequence

MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRL
LFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTS
IIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLS
YAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGIN
TAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTL
GLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNE
QPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKN
LLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEIS
AKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYE
EALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAK
ELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELK
KRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKF
RNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEAC
FNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVE
KVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVT
LTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVT
LAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPE
RGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLT
RHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQ
MMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCL
QLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQST
KLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCS
QLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGEN
ISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKK
SLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPV
ESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRC
FEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEA
WPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEE
SVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFH
QHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNY
KKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDP
HLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRK
AIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSE
QETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSA
IMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDA
WPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLF
MELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEV
LKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTT
VNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHE
AEAGSLLLAVRGTHQAFRTFSTALRAAQHWV

Sequence length

2371

Interactions

View interactions

	Reactome
			COPI-dependent Golgi-to-ER retrograde traffic

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	Pathogenic; Likely pathogenic	rs143012720, rs376113678, rs2148225587, rs1680038424, rs368516200, rs2148636532, rs1676898074, rs2528283195, rs1355806716, rs199627281, rs1232631800, rs759315662, rs1558509149, rs368085185, rs1042786545 View all (5 more)	RCV006266740 RCV002222731 RCV003479364 RCV005419261 RCV002266488 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile liver failure	Likely pathogenic; Pathogenic	rs776797592, rs761330483	RCV000602655 RCV000607971	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile liver failure syndrome 2	Pathogenic; Likely pathogenic	rs1669613513, rs143012720, rs2148233321, rs2148464034, rs2148574197, rs2148636494, rs1663675984, rs376113678, rs1253033456, rs1176007591, rs1572813576, rs368516200, rs1268309894, rs767908363, rs1339816196 View all (28 more)	RCV001334881 RCV005023152 RCV001647343 RCV001647342 RCV004040801 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic short statue	Likely pathogenic; Pathogenic	rs776797592	RCV005865358	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NBAS-related disorder	Likely pathogenic; Pathogenic	rs138546465, rs759315662, rs1478754689, rs1558275372, rs2528030864, rs770446752	RCV003893046 RCV003947561 RCV004750872 RCV003400335 RCV003412318 RCV003900026 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic	rs376113678	RCV004815643	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Pathogenic; Likely pathogenic	rs143012720, rs1663675984, rs1176007591, rs368516200, rs1268309894, rs767908363, rs1339816196, rs138546465, rs372603397, rs758863985, rs1573008071, rs780108348, rs2148636532, rs2148090502, rs765420811 View all (16 more)	RCV005023152 RCV001809206 RCV005023498 RCV005025473 RCV005014746 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs776597537	RCV005897285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (44)

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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth failure in early childhood	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, INFANTILE, TRANSIENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE ORGAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (107)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Achromatopsia	Achromatopsia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29036792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28030838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28030838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	18174267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28030838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28030838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	31577737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28122570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28122570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	28629372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	3488138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	40028213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39838718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	7472910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	21757947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28380198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30062791, 30830657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	36479642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30466980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31605509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	18174267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	27538869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	30062791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27789416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30651179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28611345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28122570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	20577004, 27789416, 28031453, 28115293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	34288298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	30681673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29661344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	29036792		★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	34386911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26578240, 27789416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	27789416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	30551545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	20577004, 27789416, 34288298, 34386911, 36479642, 40215727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30466980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	30791405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperammonemia	Hyperammonemia	Pubtator	34427841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	31507590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	34288298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	GENOMICS_ENGLAND_DG	27789416		★★★★★ ★☆☆☆☆ Found in Text Mining only
INFANTILE LIVER FAILURE SYNDROME 2	Liver failure	ORPHANET_DG	26073778		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE LIVER FAILURE SYNDROME 2	Liver failure	GENOMICS_ENGLAND_DG	26073778		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE LIVER FAILURE SYNDROME 2	Liver failure	UNIPROT_DG	26073778		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE LIVER FAILURE SYNDROME 2	Liver failure	CLINVAR_DG	26286438, 28576691		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE LIVER FAILURE SYNDROME 2	Liver failure	BEFREE	29207168, 30558828, 30772683		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INFANTILE LIVER FAILURE SYNDROME 2	Liver failure	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Diseases	Kidney Disease	BEFREE	28540990, 30681673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27387432, 27530994, 28011057, 28063928, 30062791, 30393493, 31568610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30062791, 30830657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	28611345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	26073778, 28611345, 31761904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	28611345, 28629372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	26073778, 28629372, 28946922, 30845840, 33542026, 34288298, 34386911, 34427841, 35349761, 36479642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	26073778, 26286438, 26541327, 26578240, 28031453, 28576691, 28629372, 28946922, 31015584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	35902954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	30033161		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26925671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34427841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	BEFREE	8776591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27814274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	34386911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19407829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10882752, 17028906, 17101328, 22085494, 28030838, 29036792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	29661344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11464910, 23621803, 23991058, 27789416, 34427841, 36479642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11850545, 11954550, 12706883, 17028906, 22085494, 27789416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	18174267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1A	Oculocutaneous albinism	BEFREE	30062791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	20577004, 27789416, 28115293		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic atrophy	Pubtator	20577004, 27789416, 33270637, 36479642, 40215727	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	27789416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	27789416, 33542026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	9754694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	20577004, 27789416, 28031453, 28115293, 31761904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	31507590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28939941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	28122570, 28601117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28901194, 30830657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	30062791		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY	Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	BEFREE	20577004, 26541327, 27789416, 28031453, 28115293, 31015584		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY	Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	UNIPROT_DG	20577004		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY	Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	ORPHANET_DG	20577004		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY	Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	CLINVAR_DG	26073778		★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY	Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	GENOMICS_ENGLAND_DG	27789416		★★★★★ ★☆☆☆☆ Found in Text Mining only
	Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26925671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urolithiasis	Urolithiasis	BEFREE	28653226		★★★★★ ★☆☆☆☆ Found in Text Mining only

NBAS (NBAS subunit of NRZ tethering complex)