DOCK6 (dedicator of cytokinesis 6)

Gene

• Entrez ID: 57572
• Gene name: Dedicator of cytokinesis 6
• Gene symbol: DOCK6
• Synonyms (NCBI Gene): AOS2, ZIR1
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79202547	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs145081732	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs199922090	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs200393834	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201387914	A>C,G	Pathogenic	Splice donor variant
rs369389970	G>A,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs372751467	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397509398	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs730882238	TTAG>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs752015120	G>C	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs774877657	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs879255610	A>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1170041461	T>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1226716539	->A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1555697020	G>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018644	hsa-miR-335-5p	Microarray	18185580
MIRT044102	hsa-miR-361-5p	CLASH	23622248
MIRT943018	hsa-miR-1324	CLIP-seq
MIRT943019	hsa-miR-138	CLIP-seq
MIRT943020	hsa-miR-1538	CLIP-seq
MIRT943021	hsa-miR-4326	CLIP-seq
MIRT943022	hsa-miR-4649-3p	CLIP-seq
MIRT943023	hsa-miR-4745-3p	CLIP-seq
MIRT943024	hsa-miR-4747-3p	CLIP-seq
MIRT1979220	hsa-miR-148a	CLIP-seq
MIRT1979221	hsa-miR-148b	CLIP-seq
MIRT1979222	hsa-miR-152	CLIP-seq
MIRT1979223	hsa-miR-2467-3p	CLIP-seq
MIRT1979224	hsa-miR-3144-5p	CLIP-seq
MIRT1979225	hsa-miR-3191	CLIP-seq
MIRT1979226	hsa-miR-4323	CLIP-seq
MIRT1979227	hsa-miR-4652-5p	CLIP-seq
MIRT1979228	hsa-miR-4688	CLIP-seq
MIRT1979229	hsa-miR-4711-5p	CLIP-seq
MIRT1979230	hsa-miR-486-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32203420
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0035023	Process	Regulation of Rho protein signal transduction	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 614194
• HGNC: 19189
• e!Ensembl: ENSG00000130158

Protein

• UniProt ID: Q96HP0
• Protein name: Dedicator of cytokinesis protein 6
• Protein function: Acts as a guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11878	DUF3398	48 → 157	Domain of unknown function (DUF3398)	Domain
  PF14429	DOCK-C2	544 → 723	C2 domain in Dock180 and Zizimin proteins	Domain
  PF06920	DHR-2	1490 → 2016	Dock homology region 2	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at low level in spleen, cerebellum, hippocampus and in substantia nigra. {ECO:0000269|PubMed:10718198}.
• Sequence:

  MAASERRAFAHKINRTVAAEVRKQVSRERSGSPHSSRRCSSSLGVPLTEVVEPLDFEDVL
  LSRPPDAEPGPLRDLVEFPADDLELLLQPRECRTTEPGIPKDEKLDAQVRAAVEMYIEDW
  VIVHRRYQYLSAAYSPVTTDTQRERQKGLPRQVFEQDASGDERSGPEDSNDSRRGSGSPE
  DTPRSSGASSIFDLRNLAADSLLPSLLERAAPEDVDRRNETLRRQHRPPALLTLYPAPDE
  DEAVERCSRPEPPREHFGQRILVKCLSLKFEIEIEPIFGILALYDVREKKKISENFYFDL
  NSDSMKGLLRAHGTHPAISTLARSAIFSVTYPSPDIFLVIKLEKVLQQGDISECCEPYMV
  LKEVDTAKNKEKLEKLRLAAEQFCTRLGRYRMPFAWTAVHLANIVSSAGQLDRDSDSEGE
  RRPAWTDRRRRGPQDRASSGDDACSFSGFRPATLTVTNFFKQEAERLSDEDLFKFLADMR
  RPSSLLRRLRPVTAQLKIDISPAPENPHFCLSPELLHIKPYPDPRGRPTKEILEFPAREV
  YAPHTSYRNLLYVYPHSLNFSSRQGSVRNLAVRVQYMTGEDPSQALPVIFGKSSCSEFTR
  EAFTPVVYHNKSPEFYEEFKLHLPACVTENHHLLFTFYHVSCQPRPGTALETPVGFTWIP
  LLQHGRLRTGPFCLPVSVDQPPPSYSVLTPDVALPGMRWVDGHKGVFSVELTAVSSVHPQ
  DPYLDKFFTLVHVLEEGAFPFRLKDTVLSEGNVEQELRASLAALRLASPEPLVAFSHHVL
  DKLVRLVIRPPIISGQIVNLGRGAFEAMAHVVSLVHRSLEAAQDARGHCPQLAAYVHYAF
  RLPGTEPSLPDGAPPVTVQAATLARGSGRPASLYLARSKSISSSNPDLAVAPGSVDDEVS
  RILASKLLHEELALQWVVSSSAVREAILQHAWFFFQLMVKSMALHLLLGQRLDTPRKLRF
  PGRFLDDITALVGSVGLEVITRVHKDVELAEHLNASLAFFLSDLLSLVDRGFVFSLVRAH
  YKQVATRLQSSPNPAALLTLRMEFTRILCSHEHYVTLNLPCCPLSPPASPSPSVSSTTSQ
  SSTFSSQAPDPKVTSMFELSGPFRQQHFLAGLLLTELALALEPEAEGAFLLHKKAISAVH
  SLLCGHDTDPRYAEATVKARVAELYLPLLSIARDTLPRLHDFAEGPGQRSRLASMLDSDT
  EGEGDIAGTINPSVAMAIAGGPLAPGSRASISQGPPTASRAGCALSAESSRTLLACVLWV
  LKNTEPALLQRWATDLTLPQLGRLLDLLYLCLAAFEYKGKKAFERINSLTFKKSLDMKAR
  LEEAILGTIGARQEMVRRSRERSPFGNPENVRWRKSVTHWKQTSDRVDKTKDEMEHEALV
  EGNLATEASLVVLDTLEIIVQTVMLSEARESVLGAVLKVVLYSLGSAQSALFLQHGLATQ
  RALVSKFPELLFEEDTELCADLCLRLLRHCGSRISTIRTHASASLYLLMRQNFEIGHNFA
  RVKMQVTMSLSSLVGTTQNFSEEHLRRSLKTILTYAEEDMGLRDSTFAEQVQDLMFNLHM
  ILTDTVKMKEHQEDPEMLIDLMYRIARGYQGSPDLRLTWLQNMAGKHAELGNHAEAAQCM
  VHAAALVAEYLALLEDHRHLPVGCVSFQNISSNVLEESAISDDILSPDEEGFCSGKHFTE
  LGLVGLLEQAAGYFTMGGLYEAVNEVYKNLIPILEAHRDYKKLAAVHGKLQEAFTKIMHQ
  SSGWERVFGTYFRVGFYGAHFGDLDEQEFVYKEPSITKLAEISHRLEEFYTERFGDDVVE
  IIKDSNPVDKSKLDSQKAYIQITYVEPYFDTYELKDRVTYFDRNYGLRTFLFCTPFTPDG
  RAHGELPEQHKRKTLLSTDHAFPYIKTRIRVCHREETVLTPVEVAIEDMQKKTRELAFAT
  EQDPPDAKMLQMVLQGSVGPTVNQGPLEVAQVFLAEIPEDPKLFRHHNKLRLCFKDFCKK
  CEDALRKNKALIGPDQKEYHRELERNYCRLREALQPLLTQRLPQLMAPTPPGLRNSLNRA
  SFRKADL

• Sequence length: 2047

Pathways

Reactome:

Factors involved in megakaryocyte development and platelet production

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
Adams-Oliver syndrome	Likely pathogenic; Pathogenic	rs765129469, rs730882238, rs374530179	RCV005356083 RCV000162169 RCV000600085	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Likely pathogenic; Pathogenic	rs372751467	RCV000761231	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 2	Likely pathogenic; Pathogenic	rs775397068, rs936266747, rs747575528, rs1198436520, rs2147852182, rs1232184969, rs1192375765, rs1169546944, rs765129469, rs1169086609, rs730882238, rs538506091, rs2513039217, rs879255610, rs201387914, rs1226716539, rs1555697020, rs374530179, rs1280482569, rs1555826472, rs369389970, rs752015120, rs397509398, rs397509399	RCV001771676 RCV001329797 RCV003136112 RCV001775232 RCV001775233 RCV001783135 RCV001783137 RCV002221915 RCV002283936 RCV002287622 RCV000024123 RCV004798955 RCV003155894 RCV000239532 RCV000239583 RCV000024124 RCV001261946 RCV005860116 RCV005240345 RCV000626147 RCV005860141 RCV002226740 RCV000049239 RCV000049240	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DOCK6-related disorder	Pathogenic; Likely pathogenic	rs747575528, rs2513039217, rs201387914, rs757170859, rs372751467	RCV003941023 RCV003396929 RCV004751400 RCV003939392 RCV003420034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs761856660	RCV001251729	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs1169546944, rs201387914	RCV005929877 RCV005891083	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs538506091	RCV005931991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs201387914	RCV005891084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic	rs368262294	RCV005930581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Paget disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, CONGENITAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus, nonsyndromic, autosomal recessive 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLANEMIA, FAMILIAL 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely 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
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	BEFREE	21820096, 25091416, 25824905, 29631299		★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	ORPHANET_DG	21820096		★☆☆☆☆ Found in Text Mining only
Adams Oliver syndrome	Adams-Oliver Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adams-Oliver syndrome	Adams-Oliver Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	BEFREE	21820096, 23522784, 25091416, 25824905, 26299364, 27693507, 28884918, 29631299, 29924900, 31368252		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	CLINVAR_DG	26457590, 29924900		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 1	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADAMS-OLIVER SYNDROME 2	Adams-Oliver Syndrome	GENOMICS_ENGLAND_DG	21820096, 23522784, 25824905		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 2	Adams-Oliver Syndrome	CLINVAR_DG	21820096		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADAMS-OLIVER SYNDROME 2	Adams-Oliver Syndrome	BEFREE	30898718		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	29924900		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	25091416	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28884918, 29924900		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	25091416	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	25091416	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital atresia of pulmonary artery	Congenital Atresia Of Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital defect of skull and scalp	Aplasia cutis congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	36789878	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	23522784, 25724810, 25824905, 28160419, 28884918		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29631299		★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	32317770	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	32317770	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25824905		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	35715422	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24493670	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24493670		★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29587866		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	32317770, 38201907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	33655927	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	28884918		★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	33655927	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic aortic stenosis	Rheumatic Aortic Stenosis	GWASCAT_DG	29511194		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35715422	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29587866		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	25091416		★☆☆☆☆ Found in Text Mining only