SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1)

Gene

• Entrez ID: 50485
• Gene name: SNF2 related chromatin remodeling annealing helicase 1
• Gene symbol: SMARCAL1
• Synonyms (NCBI Gene): HARP, HHARP
• Chromosome: 2
• Chromosome location: 2q35
• Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2066514	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs119473033	G>T	Pathogenic	Stop gained, coding sequence variant
rs119473034	C>T	Pathogenic	Stop gained, coding sequence variant
rs119473035	C>T	Pathogenic	Stop gained, coding sequence variant
rs119473036	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs119473037	C>T	Pathogenic	Coding sequence variant, missense variant
rs119473038	C>T	Pathogenic	Coding sequence variant, missense variant
rs139445683	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs139872089	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs139949668	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs145908212	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs148752234	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149425324	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs188833040	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs200644381	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs200666300	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs201601053	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs202031614	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267607071	G>A	Pathogenic	Coding sequence variant, missense variant
rs535448005	->C	Pathogenic	Coding sequence variant, frameshift variant
rs748106387	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs761546902	A>G	Pathogenic	Splice acceptor variant
rs766291662	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs775057827	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs780778758	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781023326	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309531	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057524680	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524681	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553526162	->CTGGGG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1553526228	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553526733	GG>TT	Likely-pathogenic	Coding sequence variant, missense variant
rs1553535161	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1559138455	G>A	Pathogenic	Splice donor variant
rs1574443133	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1574443257	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1574450161	AAGT>-	Likely-pathogenic	Coding sequence variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038478	hsa-miR-296-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19793862, 19793863, 24126761, 24910198, 24981860
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	18974355
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005662	Component	DNA replication factor A complex	IDA	19793862, 19793863
GO:0006281	Process	DNA repair	IBA
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IMP	26089390
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	18974355
GO:0006974	Process	DNA damage response	IMP	19793862
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IMP	19793862
GO:0031297	Process	Replication fork processing	TAS	27918544
GO:0035861	Component	Site of double-strand break	IDA	19793862, 19793863
GO:0036310	Function	ATP-dependent DNA/DNA annealing activity	IDA	22705370
GO:0036310	Function	ATP-dependent DNA/DNA annealing activity	IMP	18974355
GO:0043596	Component	Nuclear replication fork	IBA
GO:0090656	Process	T-circle formation	TAS	27918544

Other IDs

• MIM: 606622
• HGNC: 11102
• e!Ensembl: ENSG00000138375

Protein

• UniProt ID: Q9NZC9
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (EC 3.6.4.-) (HepA-related protein) (hHARP) (Sucrose nonfermenting protein 2-like 1)
• Protein function: ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts
• PDB: 4MQV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07443	HARP	248 → 302	HepA-related protein (HARP)	Family
  PF07443	HARP	343 → 397	HepA-related protein (HARP)	Family
  PF00176	SNF2_N	447 → 729	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	712 → 822	Helicase conserved C-terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with high levels in testis. {ECO:0000269|PubMed:10857751, ECO:0000269|PubMed:11799392}.
• Sequence:

  MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRE
  SCKPVSHGVIFKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALT
  GISPPLAQSPPEVPKQQLLSYELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHS
  SGQPPRDAKLEAKTAKASPSGQNISYIHSSSESVTPRTEGRLQQKSGSSVQKGVNSQKGK
  CVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFSMNDYSALMKAAQSLPTVNLQ
  PLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYSQDLIALFKQM
  DSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDV
  PEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWP
  LLVVVPSSVRFTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLK
  TPFKVVIIDESHFLKNSRTARCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPT
  FFPQFHAFGLRYCDAKRMPWGWDYSGSSNLGELKLLLEEAVMLRRLKSDVLSQLPAKQRK
  IVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALILFFNRTAEAKIPSVIEYILDL
  LESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVA
  VLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADD
  YLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELL
  EAAESFDPGSASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL

• Sequence length: 954

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
Atypical hemolytic-uremic syndrome	Likely pathogenic	rs1694866812	RCV001328269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs761546902	RCV005901603	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Likely pathogenic	rs1694789584	RCV005912425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited Immunodeficiency Diseases	Likely pathogenic; Pathogenic	rs200666300, rs1574450161	RCV001027621 RCV001027619	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs1694331040, rs2106050388, rs2106055226, rs119473033	RCV001849878 RCV001849880 RCV001849881 RCV001849255	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic astrocytoma	Pathogenic	rs2469012609	RCV006254360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schimke immuno-osseous dysplasia	Pathogenic; Likely pathogenic	rs2106020733, rs2106040403, rs1271242899, rs2106015063, rs2106015104, rs758888999, rs956223874, rs2106029249, rs1226835488, rs1694059874, rs762716070, rs2106086566, rs1281345070, rs2106055226, rs772028268, rs2106088642, rs2106037184, rs1559130635, rs2106033603, rs2106029186, rs140515579, rs2106073127, rs751582760, rs1294139623, rs571627974, rs2106037172, rs1694436267, rs758672665, rs1265248594, rs750721291, rs2106014776, rs2106020684, rs119473033, rs119473034, rs119473035, rs119473036, rs119473037, rs267607071, rs2469620922, rs760664233, rs1693892555, rs1559138957, rs2469000555, rs2469051900, rs2469633269, rs1694335489, rs2469611631, rs2469036894, rs2469611502, rs2469611876, rs757390175, rs2469611458, rs2469625449, rs864309531, rs762590281, rs1330853690, rs2469621168, rs2469032860, rs2469611287, rs2469610905, rs2469012609, rs2469620729, rs2469611590, rs2469017174, rs1384402545, rs1253749894, rs909012139, rs150715355, rs1006690042, rs2469621143, rs2469625446, rs2469012467, rs754516841, rs2469017048, rs1367550528, rs1693559368, rs2469051879, rs2469047745, rs2469610974, rs2469012558, rs2469611284, rs2469633152, rs1694788127, rs2469017057, rs2469614800, rs1248072601, rs2469036788, rs2469620766, rs2469610910, rs962523270, rs2469625357, rs990873729, rs2469003600, rs2469620696, rs748106387, rs149425324, rs1553535161, rs1553526228, rs1553526162, rs761546902, rs766291662, rs781023326, rs1559138455, rs1574443133, rs535448005, rs1574443257, rs200666300, rs1574450161, rs1693577284, rs1694062061, rs1694789584, rs1693554666, rs1694125419, rs1694331040, rs1693556617, rs1693893975, rs1693994454, rs1694058662, rs1694436631, rs1264577481, rs1694058443, rs1313658611	RCV001374719 RCV001377657 RCV001387850 RCV001384141 RCV001387391 RCV001386132 RCV001386133 RCV001380885 RCV001380762 RCV001380684 RCV001386134 RCV001382139 RCV001783781 RCV004587222 RCV002036489 RCV001864203 RCV001864978 RCV001999806 RCV001904405 RCV001950832 RCV001949297 RCV001977049 RCV001909776 RCV002037907 RCV001941590 RCV001949493 RCV001956344 RCV001956204 RCV001940401 RCV001962355 RCV001928145 RCV002240144 RCV000004388 RCV000004389 RCV000004390 RCV000004391 RCV000004392 RCV000004395 RCV002651604 RCV002648045 RCV002601580 RCV002635286 RCV002645828 RCV002715760 RCV002824111 RCV002824156 RCV002820547 RCV002811899 RCV002861536 RCV002857027 RCV002889589 RCV002881338 RCV002932737 RCV000202608 RCV003046195 RCV003034014 RCV003053726 RCV003057626 RCV003057113 RCV003134139 RCV003156047 RCV003503543 RCV003502945 RCV003504340 RCV003504521 RCV003504522 RCV003504523 RCV003504524 RCV003504525 RCV003502247 RCV003502332 RCV003503249 RCV003502435 RCV003504032 RCV003503313 RCV003503297 RCV003503382 RCV003503419 RCV003611740 RCV003611953 RCV003612595 RCV003612619 RCV003612650 RCV003612717 RCV003613038 RCV003612943 RCV003613169 RCV003613389 RCV003613245 RCV003613503 RCV003611232 RCV003612238 RCV003612379 RCV003858109 RCV003890762 RCV001196355 RCV000524685 RCV000590927 RCV002498879 RCV000625629 RCV000797448 RCV000700786 RCV001035667 RCV000735766 RCV000795753 RCV000804838 RCV000991373 RCV001040718 RCV001862410 RCV001062876 RCV001054627 RCV001035735 RCV001089943 RCV001207503 RCV001216644 RCV001210892 RCV001205385 RCV001209657 RCV001205978 RCV001205193 RCV001242020 RCV003502592 RCV001280866	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SMARCAL1-related disorder	Pathogenic	rs1265248594, rs761546902	RCV003941201 RCV003420206	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR SEPTAL DEFECT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ 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
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ 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
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	34103668, 36689342	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	22699664	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	22699664	Associate	★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	31474762	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	22998683	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27813696		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	16840568	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	28176476		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	9973098		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	38218042	Associate	★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36689342	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	23630135	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	31474762	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	31474762		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	31474762	Stimulate	★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	28600294		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	25319549		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	30317028		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	16237566		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	29053959		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	Pubtator	16840568	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28954549		★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	22998683	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26812616	Associate	★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	29138824		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	25319549, 27816064, 29138824		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	21109939, 29802247		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29802247, 36689342	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34103668	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21109939, 29802247		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36689342	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30936075		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	29138824	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	21327070	Associate	★☆☆☆☆ Found in Text Mining only
Hallervorden-Spatz Syndrome	Pigmentary pallidal degeneration	BEFREE	12058097		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	16840568	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	16840568	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	BEFREE	12058097		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	21327070, 33203071	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	18356746, 27816064, 28176476, 28796785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	28796785, 32393263	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	27671102		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	25319549		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33203071	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30610086		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	30610086	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	22888040		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	22888040		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	9973098		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22995303, 27797382, 28954549		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	Pubtator	31474762	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21109939, 27797382		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	CLINVAR_DG	11799392, 18805831, 24589093		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	16050398, 28796785, 29127259	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	20013129	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	27813696		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36689342	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	9973098		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	22998683		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	19841479		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30078618		★☆☆☆☆ Found in Text Mining only
Schimke immuno-osseous dysplasia	Schimke Immuno-Osseous Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	11799392, 15880370, 15884045, 16237566, 16419127, 16840568, 18356746, 18805831, 18974355, 19793861, 19793862, 19796992, 19841479, 20013129, 20179009, 21327070, 22279047, 22378147, 22699664, 22704558, 22888040, 22998683, 23010210, 23630135, 24197801, 24589093, 25319549, 25943327, 26195148, 26309238, 27282802, 27813696, 27816064, 28334870, 30635151, 31275356, 31515241		★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	UNIPROT_DG	11799392, 18974355, 19793862		★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	CLINVAR_DG	11799392, 15880370, 16840568, 17089404, 18805831, 18974355, 19127206, 19793864, 21914180, 22998683, 23671665, 24589093, 25748404, 26089390, 26499378, 28796785		★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	GENOMICS_ENGLAND_DG	15523612, 17089404, 24589093, 9674900		★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	CTD_human_DG	16237566		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	27813696		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	BEFREE	20013129		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	BEFREE	20013129		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	28796785		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	27797382		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	23630135		★☆☆☆☆ Found in Text Mining only