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	23414
Gene name	Zinc finger protein, FOG family member 2
Gene symbol	ZFPM2
Synonyms (NCBI Gene)	DIH3FOG2SRXY9ZC2HC11BZNF89BhFOG-2
Chromosome	8
Chromosome location	8q23.1
Summary	The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in ma

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908601	A>C,G	Likely-benign, benign, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs121908602	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004621	hsa-miR-141-3p	Luciferase reporter assayWestern blot	20005803
MIRT004621	hsa-miR-141-3p	Luciferase reporter assayWestern blot	20005803
MIRT004621	hsa-miR-141-3p	Luciferase reporter assayWestern blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assayWestern blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assayWestern blot	20005803
MIRT004622	hsa-miR-200a-3p	Luciferase reporter assayWestern blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assayWestern blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assayWestern blot	20005803
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assayWestern blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	20005803
MIRT004624	hsa-miR-200c-3p	Luciferase reporter assayWestern blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assayWestern blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assayWestern blot	20005803
MIRT004625	hsa-miR-429	Luciferase reporter assayWestern blot	20005803
MIRT004625	hsa-miR-429	Reporter assay	20005803
MIRT004622	hsa-miR-200a-3p	Reporter assay	20005803
MIRT004624	hsa-miR-200c-3p	Reporter assay	20005803
MIRT004621	hsa-miR-141-3p	Reporter assay	20005803
MIRT004623	hsa-miR-200b-3p	Reporter assay	20005803
MIRT028872	hsa-miR-26b-5p	Microarray	19088304
MIRT004623	hsa-miR-200b-3p	Luciferase reporter assayWestern blot	24412919
MIRT1511988	hsa-miR-1269	CLIP-seq
MIRT1511989	hsa-miR-1269b	CLIP-seq
MIRT1511990	hsa-miR-1288	CLIP-seq
MIRT1511991	hsa-miR-1299	CLIP-seq
MIRT1511992	hsa-miR-138	CLIP-seq
MIRT1511993	hsa-miR-140-3p	CLIP-seq
MIRT1511994	hsa-miR-200b	CLIP-seq
MIRT1511995	hsa-miR-200c	CLIP-seq
MIRT1511996	hsa-miR-3140-3p	CLIP-seq
MIRT1511997	hsa-miR-3662	CLIP-seq
MIRT1511998	hsa-miR-3686	CLIP-seq
MIRT1511999	hsa-miR-378	CLIP-seq
MIRT1512000	hsa-miR-378b	CLIP-seq
MIRT1512001	hsa-miR-378c	CLIP-seq
MIRT1512002	hsa-miR-378d	CLIP-seq
MIRT1512003	hsa-miR-378e	CLIP-seq
MIRT1512004	hsa-miR-378f	CLIP-seq
MIRT1512005	hsa-miR-378h	CLIP-seq
MIRT1512006	hsa-miR-378i	CLIP-seq
MIRT1512007	hsa-miR-422a	CLIP-seq
MIRT1512008	hsa-miR-4263	CLIP-seq
MIRT1512009	hsa-miR-4515	CLIP-seq
MIRT1512010	hsa-miR-4638-3p	CLIP-seq
MIRT1512011	hsa-miR-4652-3p	CLIP-seq
MIRT1512012	hsa-miR-4740-5p	CLIP-seq
MIRT1512013	hsa-miR-4773	CLIP-seq
MIRT1512014	hsa-miR-4782-5p	CLIP-seq
MIRT1512015	hsa-miR-4799-5p	CLIP-seq
MIRT1512016	hsa-miR-516b	CLIP-seq
MIRT1512017	hsa-miR-576-5p	CLIP-seq
MIRT2154144	hsa-miR-3120-3p	CLIP-seq
MIRT2154145	hsa-miR-3157-5p	CLIP-seq
MIRT2154146	hsa-miR-4691-3p	CLIP-seq
MIRT2154147	hsa-miR-512-5p	CLIP-seq
MIRT2154148	hsa-miR-545	CLIP-seq
MIRT2666896	hsa-miR-106a	CLIP-seq
MIRT2666897	hsa-miR-106b	CLIP-seq
MIRT2666898	hsa-miR-1284	CLIP-seq
MIRT2666899	hsa-miR-130a	CLIP-seq
MIRT2666900	hsa-miR-130b	CLIP-seq
MIRT2666901	hsa-miR-142-5p	CLIP-seq
MIRT2666902	hsa-miR-17	CLIP-seq
MIRT2666903	hsa-miR-19a	CLIP-seq
MIRT2666904	hsa-miR-19b	CLIP-seq
MIRT2666905	hsa-miR-20a	CLIP-seq
MIRT2666906	hsa-miR-20b	CLIP-seq
MIRT2666907	hsa-miR-301a	CLIP-seq
MIRT2666908	hsa-miR-301b	CLIP-seq
MIRT2666909	hsa-miR-340	CLIP-seq
MIRT2666910	hsa-miR-3609	CLIP-seq
MIRT2666911	hsa-miR-3666	CLIP-seq
MIRT2666912	hsa-miR-3920	CLIP-seq
MIRT2666913	hsa-miR-4293	CLIP-seq
MIRT2666914	hsa-miR-4295	CLIP-seq
MIRT2666915	hsa-miR-454	CLIP-seq
MIRT2666916	hsa-miR-4686	CLIP-seq
MIRT2666917	hsa-miR-4796-3p	CLIP-seq
MIRT2666918	hsa-miR-519a	CLIP-seq
MIRT2666919	hsa-miR-519b-3p	CLIP-seq
MIRT2666920	hsa-miR-519c-3p	CLIP-seq
MIRT2666921	hsa-miR-519d	CLIP-seq
MIRT2666922	hsa-miR-548ah	CLIP-seq
MIRT2666923	hsa-miR-93	CLIP-seq
MIRT2666901	hsa-miR-142-5p	CLIP-seq
MIRT2666909	hsa-miR-340	CLIP-seq
MIRT2666916	hsa-miR-4686	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10438528
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	IMP	20807224
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003221	Process	Right ventricular cardiac muscle tissue morphogenesis	IMP	20807224
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	10438528
GO:0003714	Function	Transcription corepressor activity	IDA	10438528
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0005515	Function	Protein binding	IPI	10438528, 19723756, 20705609, 21220346, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007506	Process	Gonadal mesoderm development	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	10438528
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	IMP	20705609
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	20206639
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10438528
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	IEA
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060412	Process	Ventricular septum morphogenesis	IMP	20807224
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	10438528
GO:2000020	Process	Positive regulation of male gonad development	IEA
GO:2000195	Process	Negative regulation of female gonad development	IEA

MIM	HGNC	e!Ensembl
603693	16700	ENSG00000169946

Q8WW38

Protein name

Zinc finger protein ZFPM2 (Friend of GATA protein 2) (FOG-2) (Friend of GATA 2) (hFOG-2) (Zinc finger protein 89B) (Zinc finger protein multitype 2)

Protein function

Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a hetero

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12874	zf-met	1119 → 1139		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at low level. {ECO:0000269|PubMed:10438528}.

Sequence

MSRRKQSKPRQIKRPLEDAIEDEEEECPSEETDIISKGDFPLEESFSTEFGPENLSCEEV
EYFCNKGDDEGIQETAESDGDTQSEKPGQPGVETDDWDGPGELEVFQKDGERKIQSRQQL
PVGTTWGPFPGKMDLNNNSLKTKAQVPMVLTAGPKWLLDVTWQGVEDNKNNCIVYSKGGQ
LWCTTTKAISEGEELIAFVVDFDSRLQAASQMTLTEGMYPARLLDSIQLLPQQAAMASIL
PTAIVNKDIFPCKSCGIWYRSERNLQAHLMYYCSGRQREAAPVSEENEDSAHQISSLCPF
PQCTKSFSNARALEMHLNSHSGVKMEEFLPPGASLKCTVCSYTADSVINFHQHLFSHLTQ
AAFRCNHCHFGFQTQRELLQHQELHVPSGKLPRESDMEHSPSATEDSLQPATDLLTRSEL
PQSQKAMQTKDASSDTELDKCEKKTQLFLTNQRPEIQPTTNKQSFSYTKIKSEPSSPRLA
SSPVQPNIGPSFPVGPFLSQFSFPQDITMVPQASEILAKMSELVHRRLRHGSSSYPPVIY
SPLMPKGATCFECNITFNNLDNYLVHKKHYCSSRWQQMAKSPEFPSVSEKMPEALSPNTG
QTSINLLNPAAHSADPENPLLQTSCINSSTVLDLIGPNGKGHDKDFSTQTKKLSTSSNND
DKINGKPVDVKNPSVPLVDGESDPNKTTCEACNITFSRHETYMVHKQYYCATRHDPPLKR
SASNKVPAMQRTMRTRKRRKMYEMCLPEQEQRPPLVQQRFLDVANLNNPCTSTQEPTEGL
GECYHPRCDIFPGIVSKHLETSLTINKCVPVSKCDTTHSSVSCLEMDVPIDLSKKCLSQS
ERTTTSPKRLLDYHECTVCKISFNKVENYLAHKQNFCPVTAHQRNDLGQLDGKVFPNPES
ERNSPDVSYERSIIKCEKNGNLKQPSPNGNLFSSHLATLQGLKVFSEAAQLIATKEENRH
LFLPQCLYPGAIKKAKGADQLSPYYGIKPSDYISGSLVIHNTDIEQSRNAENESPKGQAS
SNGCAALKKDSLPLLPKNRGMVIVNGGLKQDERPAANPQQENISQNPQHEDDHKSPSWIS
ENPLAANENVSPGIPSAEEQLSSIAKGVNGSSQAPTSGKYCRLCDIQFNNLSNFITHKKF
YCSSHAAEHVK

Sequence length

1151

Interactions

View interactions

	KEGG		Reactome
	MicroRNAs in cancer		Factors involved in megakaryocyte development and platelet production

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XY sex reversal 9	Likely pathogenic; Pathogenic	rs1404513559, rs1195263093, rs606231252	RCV001730105 RCV001993188 RCV000144724	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diaphragmatic hernia 3	Pathogenic; Likely pathogenic	rs2536827502, rs121908602, rs121908604, rs1813907455, rs1814012663	RCV002285126 RCV000006503 RCV000006505 RCV001269307 RCV001269308	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Double outlet right ventricle	Pathogenic	rs397514520, rs397514521	RCV000032714 RCV000032717	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZFPM2-related disorder	Likely pathogenic	rs1811964183	RCV003897282	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (42)

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.
46,XY PARTIAL GONADAL DYSGENESIS	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY sex reversal 3	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DIAPHRAGMATIC HERNIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL CARDIAC DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (144)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	24549039		★★★★★ ★☆☆☆☆ Found in Text Mining only
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	24549039		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY SEX REVERSAL 9	46, XY Sex Reversal	UNIPROT_DG	24549039		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY SEX REVERSAL 9	46, XY Sex Reversal	GENOMICS_ENGLAND_DG	25813279		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY SEX REVERSAL 9	46, XY Sex Reversal	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY SEX REVERSAL 9	46, XY Sex Reversal	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30093726, 31297866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35347084, 35669784	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21790008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26207917	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29536580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	25996639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Barakat syndrome	Hypoparathyroidism-deafness-renal disease syndrome	BEFREE	19723756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	30822522		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30822522, 33215431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31298319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32744687, 33102579, 34603293, 36524359, 39202457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31298319, 35258173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29332214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30940143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31796117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33300060	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17568391, 25484136		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	17568391, 19853750, 21525063, 21739578, 24702427, 24769157		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	ORPHANET_DG	21525063		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	17309641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	17309641, 25981510, 27118988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	19853750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	25025186	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal defect	Conotruncal defect	BEFREE	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
CONOTRUNCAL HEART MALFORMATIONS (disorder)	Conotruncal heart defect	UNIPROT_DG	20807224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31679650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	31679650		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	31679650	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	27058611, 28372585, 29332214, 31513339, 31679650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	27899089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31679650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31679650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	BEFREE	17568391		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	25981510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	31962012, 33202802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	31962012, 33202802, 37413951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	20807224, 21919901, 24469719		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Double Outlet Right Ventricle	Double Outlet Right Ventricle	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32065218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	39202457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	25414181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	22570617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASDB_DG	22570617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26207917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26207917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	17309641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	GENOMICS_ENGLAND_DG	16103912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	24549039, 26526145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	25981510, 35119225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	30716443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermaphroditism	Hermaphroditism	BEFREE	30599151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	31405227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	27899089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	29536580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	31074064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31406464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28691020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	39202457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	39202457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	GWASCAT_DG	26752265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26314828, 32561925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31298319, 35258173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33215431, 33300060	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	30822522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26207917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31405227	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplasia	Myelodysplasia	BEFREE	15705784		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15705784		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	15705784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32633364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10999851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	21947875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	15705784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19707195, 26207917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19707195	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26207917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28373160, 29262331, 31012180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28373160, 34638758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	33778083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23029311, 26207917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	21947317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29262331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	32561925	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	34989314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21947317		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	23453885, 30285260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	24549039, 30550360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	14517948, 17309641, 19630881, 19818949, 20807224, 21919901, 24469719, 25025186, 25981510, 26959486, 29536580		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	ORPHANET_DG	14517948, 24702427		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	UNIPROT_DG	14517948, 20807224		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	GENOMICS_ENGLAND_DG	16103912		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	25025186, 25981510	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thyroiditis Autoimmune	Thyroiditis	Pubtator	26955881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	BEFREE	15643620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34326372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	17309641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33300060	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	28373160	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	BEFREE	21919901		★★★★★ ★☆☆☆☆ Found in Text Mining only

ZFPM2 (zinc finger protein, FOG family member 2)