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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	375748
Gene name	ERCC excision repair 6 like 2
Gene symbol	ERCC6L2
Synonyms (NCBI Gene)	BMFS2C9orf102HEBORAD26LSR278
Chromosome	9
Chromosome location	9q22.32
Summary	This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced t

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147948835	C>T	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs886037662	AACA>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant

121

Show/Hide all (121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017550	hsa-miR-335-5p	Microarray	18185580
MIRT671415	hsa-miR-3714	HITS-CLIP	23824327
MIRT671414	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT671413	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT671412	hsa-miR-940	HITS-CLIP	23824327
MIRT671411	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671410	hsa-miR-5004-5p	HITS-CLIP	23824327
MIRT671409	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT671408	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671407	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671406	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671405	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671404	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT671403	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671402	hsa-miR-7977	HITS-CLIP	23824327
MIRT671401	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671400	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671399	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671398	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671397	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671396	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671395	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671394	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671393	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671392	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671391	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671390	hsa-miR-3122	HITS-CLIP	23824327
MIRT671389	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671388	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671387	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT671415	hsa-miR-3714	HITS-CLIP	23824327
MIRT671414	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT671413	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT671412	hsa-miR-940	HITS-CLIP	23824327
MIRT671411	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671410	hsa-miR-5004-5p	HITS-CLIP	23824327
MIRT671409	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT671408	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671407	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671406	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671405	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671404	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT671403	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671402	hsa-miR-7977	HITS-CLIP	23824327
MIRT671401	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671400	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671399	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671398	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671397	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671396	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671395	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671394	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671393	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671392	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671391	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671390	hsa-miR-3122	HITS-CLIP	23824327
MIRT671389	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671388	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671387	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT662164	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT662163	hsa-miR-3162-3p	HITS-CLIP	23824327
MIRT671415	hsa-miR-3714	HITS-CLIP	23824327
MIRT671414	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT671413	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT671412	hsa-miR-940	HITS-CLIP	23824327
MIRT671411	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671410	hsa-miR-5004-5p	HITS-CLIP	23824327
MIRT671409	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT671408	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671407	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671406	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671405	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671404	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT671403	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671402	hsa-miR-7977	HITS-CLIP	23824327
MIRT671401	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671400	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671399	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671398	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671397	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671396	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671395	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671394	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671393	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671392	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671391	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671390	hsa-miR-3122	HITS-CLIP	23824327
MIRT671389	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671388	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671387	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT671415	hsa-miR-3714	HITS-CLIP	23824327
MIRT671414	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT671413	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT671412	hsa-miR-940	HITS-CLIP	23824327
MIRT671411	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671410	hsa-miR-5004-5p	HITS-CLIP	23824327
MIRT671409	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT671408	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT671407	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT671406	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT671405	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT671404	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT671403	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT671402	hsa-miR-7977	HITS-CLIP	23824327
MIRT671401	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT671400	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT671399	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT671398	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT671397	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT671396	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT671395	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT671394	hsa-miR-3689c	HITS-CLIP	23824327
MIRT671393	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT671392	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT671391	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT671390	hsa-miR-3122	HITS-CLIP	23824327
MIRT671389	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT671388	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT671387	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT662164	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT662163	hsa-miR-3162-3p	HITS-CLIP	23824327

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000775	Component	Chromosome, centromeric region	IDA	37014751
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0003677	Function	DNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 32355287, 37014751
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	32355287
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	24507776
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	24507776
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	24507776
GO:0005813	Component	Centrosome	IDA	20873783
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IDA	37014751
GO:0006974	Process	DNA damage response	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	20873783
GO:0032991	Component	Protein-containing complex	IDA	20873783
GO:0034614	Process	Cellular response to reactive oxygen species	IMP	24507776
GO:0036297	Process	Interstrand cross-link repair	IBA
GO:0036297	Process	Interstrand cross-link repair	IMP	24507776
GO:0097680	Process	Double-strand break repair via classical nonhomologous end joining	IDA	32355287

MIM	HGNC	e!Ensembl
615667	26922	ENSG00000182150

Q5T890

Protein name

DNA excision repair protein ERCC-6-like 2 (EC 3.6.4.-) (DNA repair and recombination protein RAD26-like) (Excision repair cross-complementation group 6-like 2)

Protein function

Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair (By similarity). Also plays a role in DNA repair by restricting DNA end r

PDB

6HQ9 , 8COB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00176	SNF2_N	132 → 473	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	519 → 632	Helicase conserved C-terminal domain	Family
PF14773	VIGSSK	1123 → 1153	Helicase-associated putative binding domain, C-terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in bone marrow (at protein level). {ECO:0000269|PubMed:24507776}.

Sequence

MQPGSAPPPGRMDPSAPQPRAETSGKDIWHPGERCLAPSPDNGKLCEASIKSITVDENGK
SFAVVLYADFQERKIPLKQLQEVKFVKDCPRNLIFDDEDLEKPYFPNRKFPSSSVAFKLS
DNGDSIPYTINRYLRDYQREGTRFLYGHYIHGGGCILGDDMGLGKTVQVISFLAAVLHKK
GTREDIENNMPEFLLRSMKKEPLSSTAKKMFLIVAPLSVLYNWKDELDTWGYFRVTVLHG
NRKDNELIRVKQRKCEIALTTYETLRLCLDELNSLEWSAVIVDEAHRIKNPKARVTEVMK
ALKCNVRIGLTGTILQNNMKELWCVMDWAVPGLLGSGTYFKKQFSDPVEHGQRHTATKRE
LATGRKAMQRLAKKMSGWFLRRTKTLIKDQLPKKEDRMVYCSLTDFQKAVYQTVLETEDV
TLILQSSEPCTCRSGQKRRNCCYKTNSHGETVKTLYLSYLTVLQKVANHVALLQAASTSK
QQETLIKRICDQVFSRFPDFVQKSKDAAFETLSDPKYSGKMKVLQQLLNHCRKNRDKVLL
FSFSTKLLDVLQQYCMASGLDYRRLDGSTKSEERLKIVKEFNSTQDVNICLVSTMAGGLG
LNFVGANVVVLFDPTWNPANDLQAIDRAYRIGQCRDVKVLRLISLGTVEEIMYLRQIYKQ
QLHCVVVGSENAKRYFEAVQGSKEHQGELFGIHNLFKFRSQGSCLTKDILEREGQVEAGI
MTATTWLKEGPPAHKLEMPRQPDCQECRGTEQAAEPLAKEACDLCSDFSDEEPVGATGIK
TAKNKAPDSSKASSSPGQLTLLQCGFSKLLETKCKAVEDSDGNTASDDESSDEQPTCLST
EAKDAGCEKNQDSLGTSKHQKLDNILNPKEKHIFYKSEKILEQNISSKSDEKKIKNTDKH
CILQNVTESEDSDVICPTQYTTERFPDNSIRFKPPLEGSEDSETEHTVKTRNNDNSRNTD
DKRNGIISKKLSPENTTLKSILKRKGTSDISDESDDIEISSKSRVRKRASSLRFKRIKET
KKELHNSPKTMNKTNQVYAANEDHNSQFIDDYSSSDESLSVSHFSFSKQSHRPRTIRDRT
SFSSKLPSHNKKNSTFIPRKPMKCSNEKVVNQEQSYESMDKFLDGVQEVAYIHSNQNVIG
SSKAENHMSRWAAHDVFELKQFSQLPANIAVCSSKTYKEKVDADTLPHTKKGQQPSEGSI
SLPLYISNPVNQKKKKVYHTNQTTFIIGETPKGIRRKQFEEMASYFNSSSVNEFAKHITN
ATSEERQKMLRDFYASQYPEVKEFFVDSVSQFNNSSFEKGEQRTRKKSDKRESLIKPRLS
DSETLSFKDSTNKISQVCSLKTYKRKSVKFQNHISYREEVFFNDAETKKSPVSSTQEIDS
GKNSQASEDTVTSRSLNSESETRERRLENTMKDQQDLTRTGISRKEPLLKLENKKIENPV
LENTSVISLLGDTSILDDLFKSHGNSPTQLPKKVLSGPMEKAKQRPKDFWDILNEQNDES
LSKLTDLAVIETLCEKAPLAAPFKRREEPATSLWKSNEKFLWKKFSPSDTDENATNTQST
T

Sequence length

1561

Interactions

View interactions

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
Bone marrow hypocellularity	Likely pathogenic	rs2133080742, rs2133081935	RCV001527703 RCV001527706	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ERCC6L2-related disorder	Likely pathogenic; Pathogenic	rs1480433270, rs2490598994, rs764007539, rs1829555179, rs778926161	RCV003399325 RCV003391642 RCV003418791 RCV004750945 RCV004751561	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic	rs147948835	RCV003445510	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancytopenia-developmental delay syndrome	Pathogenic; Likely pathogenic	rs147948835, rs886037662, rs2132792543, rs1226402321, rs2490496458, rs2490562078, rs778926161, rs1588013817	RCV000111474 RCV000111475 RCV001781052 RCV003989729 RCV003388733 RCV003988674 RCV001270090 RCV001004901 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Premature ovarian insufficiency	Pathogenic	rs902795242	RCV000766137	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Likely pathogenic	rs2133079257	RCV001527707	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE MARROW FAILURE SYNDROME 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL BONE MARROW FAILURE SYNDROMES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PANCYTOPENIA WITH DEVELOPMENTAL DELAY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30879219		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	24047446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	24507776, 27185855, 29987015, 36156210, 36952636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone marrow failure syndrome 1	Bone Marrow Failure Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone marrow failure syndrome 2	Bone Marrow Failure Syndrome	GENOMICS_ENGLAND_DG	24507776, 27185855		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 2	Bone Marrow Failure Syndrome	ORPHANET_DG	24507776		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 2	Bone Marrow Failure Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 2	Bone Marrow Failure Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Marrow failure syndromes	Bone marrow failure syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	29146883, 29987015	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	36480781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	27185855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28815563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	36952636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited acute myeloid leukemia	Myeloid Leukemia	ORPHANET_DG	30936069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited acute myeloid leukemia	Myeloid Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited bone marrow failure syndrome	Inherited Bone Marrow Failure Syndrome	BEFREE	29633571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36952636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	24047446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	27185855	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28815563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	36952636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	29146883, 29987015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	24507776, 28815563, 29987015		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancytopenia	Pancytopenia	Pubtator	29146883	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pancytopenia-developmental delay syndrome	Pancytopenia-developmental delay syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinson Disease	Parkinson disease	BEFREE	27545685, 30879219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27545685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ERCC6L2 (ERCC excision repair 6 like 2)