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	55704
Gene name	Coiled-coil and HOOK domain protein 88A
Gene symbol	CCDC88A
Synonyms (NCBI Gene)	APEGIRDINGIVGRDNHkRP1KIAA1212PEHOPEHOL
Chromosome	2
Chromosome location	2p16.1
Summary	This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration.

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SNP ID	Visualize variation	Clinical significance	Consequence
rs879255649	A>-	Pathogenic	Coding sequence variant, stop gained

156

Show/Hide all (156)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019700	hsa-miR-375	Microarray	20215506
MIRT053777	hsa-miR-4448	ChIP-seqFlowMicroarrayqRT-PCRWestern blot	24861464
MIRT499574	hsa-miR-4311	PAR-CLIP	24398324
MIRT499573	hsa-miR-583	PAR-CLIP	24398324
MIRT499572	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499571	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499570	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499569	hsa-miR-4510	PAR-CLIP	24398324
MIRT499568	hsa-miR-6127	PAR-CLIP	24398324
MIRT499567	hsa-miR-6129	PAR-CLIP	24398324
MIRT499566	hsa-miR-6130	PAR-CLIP	24398324
MIRT499565	hsa-miR-6133	PAR-CLIP	24398324
MIRT499564	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT499563	hsa-miR-4306	PAR-CLIP	24398324
MIRT499561	hsa-miR-4644	PAR-CLIP	24398324
MIRT499562	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT499560	hsa-miR-8085	PAR-CLIP	24398324
MIRT499564	hsa-miR-185-5p	PAR-CLIP	27292025
MIRT499563	hsa-miR-4306	PAR-CLIP	27292025
MIRT499574	hsa-miR-4311	PAR-CLIP	27292025
MIRT499570	hsa-miR-4419a	PAR-CLIP	27292025
MIRT499569	hsa-miR-4510	PAR-CLIP	27292025
MIRT499561	hsa-miR-4644	PAR-CLIP	27292025
MIRT499573	hsa-miR-583	PAR-CLIP	27292025
MIRT499568	hsa-miR-6127	PAR-CLIP	27292025
MIRT499567	hsa-miR-6129	PAR-CLIP	27292025
MIRT499566	hsa-miR-6130	PAR-CLIP	27292025
MIRT499565	hsa-miR-6133	PAR-CLIP	27292025
MIRT499562	hsa-miR-6731-5p	PAR-CLIP	27292025
MIRT499571	hsa-miR-6760-5p	PAR-CLIP	27292025
MIRT499572	hsa-miR-6873-5p	PAR-CLIP	27292025
MIRT499560	hsa-miR-8085	PAR-CLIP	27292025
MIRT499574	hsa-miR-4311	PAR-CLIP	24398324
MIRT499573	hsa-miR-583	PAR-CLIP	24398324
MIRT499572	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499571	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499570	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499569	hsa-miR-4510	PAR-CLIP	24398324
MIRT499568	hsa-miR-6127	PAR-CLIP	24398324
MIRT499567	hsa-miR-6129	PAR-CLIP	24398324
MIRT499566	hsa-miR-6130	PAR-CLIP	24398324
MIRT499565	hsa-miR-6133	PAR-CLIP	24398324
MIRT499564	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT499563	hsa-miR-4306	PAR-CLIP	24398324
MIRT499561	hsa-miR-4644	PAR-CLIP	24398324
MIRT499562	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT499560	hsa-miR-8085	PAR-CLIP	24398324
MIRT870106	hsa-miR-3688-3p	CLIP-seq
MIRT870107	hsa-miR-4422	CLIP-seq
MIRT870108	hsa-miR-4424	CLIP-seq
MIRT870109	hsa-miR-603	CLIP-seq
MIRT870110	hsa-miR-185	CLIP-seq
MIRT870111	hsa-miR-3120-3p	CLIP-seq
MIRT870112	hsa-miR-3153	CLIP-seq
MIRT870106	hsa-miR-3688-3p	CLIP-seq
MIRT870113	hsa-miR-3978	CLIP-seq
MIRT870114	hsa-miR-4272	CLIP-seq
MIRT870115	hsa-miR-4310	CLIP-seq
MIRT870116	hsa-miR-4330	CLIP-seq
MIRT870117	hsa-miR-4506	CLIP-seq
MIRT870118	hsa-miR-4659a-5p	CLIP-seq
MIRT870119	hsa-miR-4659b-5p	CLIP-seq
MIRT870120	hsa-miR-4668-5p	CLIP-seq
MIRT870121	hsa-miR-4775	CLIP-seq
MIRT870122	hsa-miR-4776-3p	CLIP-seq
MIRT870123	hsa-miR-510	CLIP-seq
MIRT870124	hsa-miR-512-5p	CLIP-seq
MIRT870109	hsa-miR-603	CLIP-seq
MIRT870125	hsa-miR-618	CLIP-seq
MIRT870110	hsa-miR-185	CLIP-seq
MIRT1958341	hsa-miR-4680-5p	CLIP-seq
MIRT1958342	hsa-miR-9	CLIP-seq
MIRT2195105	hsa-miR-129-5p	CLIP-seq
MIRT2195106	hsa-miR-3692	CLIP-seq
MIRT2195107	hsa-miR-4717-3p	CLIP-seq
MIRT2195108	hsa-miR-4742-3p	CLIP-seq
MIRT2195109	hsa-miR-4768-5p	CLIP-seq
MIRT2195110	hsa-miR-4802-3p	CLIP-seq
MIRT2195111	hsa-miR-586	CLIP-seq
MIRT2195112	hsa-miR-656	CLIP-seq
MIRT2385678	hsa-miR-3606	CLIP-seq
MIRT2385679	hsa-miR-921	CLIP-seq
MIRT2446439	hsa-miR-606	CLIP-seq
MIRT2498415	hsa-miR-1261	CLIP-seq
MIRT2498416	hsa-miR-1272	CLIP-seq
MIRT2498417	hsa-miR-1278	CLIP-seq
MIRT2498418	hsa-miR-1294	CLIP-seq
MIRT2498419	hsa-miR-141	CLIP-seq
MIRT2498420	hsa-miR-181a	CLIP-seq
MIRT2498421	hsa-miR-181b	CLIP-seq
MIRT2498422	hsa-miR-181c	CLIP-seq
MIRT2498423	hsa-miR-181d	CLIP-seq
MIRT2498424	hsa-miR-200a	CLIP-seq
MIRT2498425	hsa-miR-208a	CLIP-seq
MIRT2498426	hsa-miR-208b	CLIP-seq
MIRT2498427	hsa-miR-298	CLIP-seq
MIRT870111	hsa-miR-3120-3p	CLIP-seq
MIRT2498428	hsa-miR-3617	CLIP-seq
MIRT2195106	hsa-miR-3692	CLIP-seq
MIRT2498429	hsa-miR-369-3p	CLIP-seq
MIRT2498430	hsa-miR-374a	CLIP-seq
MIRT2498431	hsa-miR-374b	CLIP-seq
MIRT2498432	hsa-miR-4262	CLIP-seq
MIRT2498433	hsa-miR-4289	CLIP-seq
MIRT870115	hsa-miR-4310	CLIP-seq
MIRT2498434	hsa-miR-4316	CLIP-seq
MIRT2498435	hsa-miR-4438	CLIP-seq
MIRT2498436	hsa-miR-4503	CLIP-seq
MIRT2498437	hsa-miR-4517	CLIP-seq
MIRT2498438	hsa-miR-4524	CLIP-seq
MIRT2195108	hsa-miR-4742-3p	CLIP-seq
MIRT2498439	hsa-miR-4760-3p	CLIP-seq
MIRT2195109	hsa-miR-4768-5p	CLIP-seq
MIRT870121	hsa-miR-4775	CLIP-seq
MIRT2195110	hsa-miR-4802-3p	CLIP-seq
MIRT2498440	hsa-miR-490-5p	CLIP-seq
MIRT2498441	hsa-miR-499-5p	CLIP-seq
MIRT2498442	hsa-miR-501-3p	CLIP-seq
MIRT2498443	hsa-miR-502-3p	CLIP-seq
MIRT870125	hsa-miR-618	CLIP-seq
MIRT2498444	hsa-miR-641	CLIP-seq
MIRT2498415	hsa-miR-1261	CLIP-seq
MIRT2498416	hsa-miR-1272	CLIP-seq
MIRT2498417	hsa-miR-1278	CLIP-seq
MIRT2677507	hsa-miR-128	CLIP-seq
MIRT2498418	hsa-miR-1294	CLIP-seq
MIRT2498419	hsa-miR-141	CLIP-seq
MIRT2498424	hsa-miR-200a	CLIP-seq
MIRT2498425	hsa-miR-208a	CLIP-seq
MIRT2498426	hsa-miR-208b	CLIP-seq
MIRT2677508	hsa-miR-2116	CLIP-seq
MIRT2498427	hsa-miR-298	CLIP-seq
MIRT2677509	hsa-miR-3198	CLIP-seq
MIRT2498428	hsa-miR-3617	CLIP-seq
MIRT2498429	hsa-miR-369-3p	CLIP-seq
MIRT2498430	hsa-miR-374a	CLIP-seq
MIRT2498431	hsa-miR-374b	CLIP-seq
MIRT2677510	hsa-miR-4273	CLIP-seq
MIRT2498433	hsa-miR-4289	CLIP-seq
MIRT2677511	hsa-miR-4309	CLIP-seq
MIRT2498434	hsa-miR-4316	CLIP-seq
MIRT2677512	hsa-miR-432	CLIP-seq
MIRT2498435	hsa-miR-4438	CLIP-seq
MIRT2677513	hsa-miR-4445	CLIP-seq
MIRT2498436	hsa-miR-4503	CLIP-seq
MIRT2498437	hsa-miR-4517	CLIP-seq
MIRT2498438	hsa-miR-4524	CLIP-seq
MIRT2677514	hsa-miR-4677-5p	CLIP-seq
MIRT2498439	hsa-miR-4760-3p	CLIP-seq
MIRT2195110	hsa-miR-4802-3p	CLIP-seq
MIRT2498440	hsa-miR-490-5p	CLIP-seq
MIRT2498441	hsa-miR-499-5p	CLIP-seq
MIRT2498442	hsa-miR-501-3p	CLIP-seq
MIRT2498443	hsa-miR-502-3p	CLIP-seq
MIRT870125	hsa-miR-618	CLIP-seq
MIRT2498444	hsa-miR-641	CLIP-seq

Show/Hide all (69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IPI	19211784, 23509302, 27621449
GO:0003779	Function	Actin binding	IDA	16139227
GO:0005080	Function	Protein kinase C binding	IPI	23509302
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	19211784, 23509302, 27864364
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005092	Function	GDP-dissociation inhibitor activity	IDA	27621449
GO:0005154	Function	Epidermal growth factor receptor binding	IPI	20462955, 25187647
GO:0005158	Function	Insulin receptor binding	IPI	25187647
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15882442
GO:0005794	Component	Golgi apparatus	IDA	15882442
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA
GO:0005814	Component	Centriole	IDA	27623382
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	15749703, 27864364
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	15882442, 27864364
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IDA	19211784, 23509302, 27621449, 27864364
GO:0007399	Process	Nervous system development	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0010975	Process	Regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	IDA	15749703, 15882442
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IMP	16139227
GO:0030027	Component	Lamellipodium	IDA	16139227
GO:0030027	Component	Lamellipodium	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030032	Process	Lamellipodium assembly	IMP	16139227
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IBA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	IBA
GO:0031252	Component	Cell leading edge	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	15882442
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031929	Process	TOR signaling	IEA
GO:0031929	Process	TOR signaling	ISS
GO:0032147	Process	Activation of protein kinase activity	IDA	21954290
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	16139227
GO:0035091	Function	Phosphatidylinositol binding	IDA	16139227
GO:0036064	Component	Ciliary basal body	IDA	27623382
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0042169	Function	SH2 domain binding	IPI	21954290
GO:0042803	Function	Protein homodimerization activity	IPI	16139227
GO:0042995	Component	Cell projection	IEA
GO:0043184	Function	Vascular endothelial growth factor receptor 2 binding	IPI	25187647
GO:0043422	Function	Protein kinase B binding	IEA
GO:0043422	Function	Protein kinase B binding	IPI	16139227
GO:0043539	Function	Protein serine/threonine kinase activator activity	IEA
GO:0043539	Function	Protein serine/threonine kinase activator activity	ISS
GO:0045724	Process	Positive regulation of cilium assembly	IMP	27623382
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IDA	20462955
GO:0051496	Process	Positive regulation of stress fiber assembly	IMP	16139227
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0061024	Process	Membrane organization	IDA	15882442
GO:0072660	Process	Maintenance of protein location in plasma membrane	IDA	20462955
GO:1903566	Process	Positive regulation of protein localization to cilium	IMP	27623382

MIM	HGNC	e!Ensembl
609736	25523	ENSG00000115355

Q3V6T2

Protein name

Girdin (Akt phosphorylation enhancer) (APE) (Coiled-coil domain-containing protein 88A) (G alpha-interacting vesicle-associated protein) (GIV) (Girders of actin filament) (Hook-related protein 1) (HkRP1)

Protein function

Bifunctional modulator of guanine nucleotide-binding proteins (G proteins) (PubMed:19211784, PubMed:27621449). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein G(i) alpha s

PDB

6MHF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF19047	HOOK_N	13 → 167	HOOK domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed ubiquitously. {ECO:0000269|PubMed:16139227}.

Sequence

MENEIFTPLLEQFMTSPLVTWVKTFGPLAAGNGTNLDEYVALVDGVFLNQVMLQINPKLE
SQRVNKKVNNDASLRMHNLSILVRQIKFYYQETLQQLIMMSLPNVLIIGKNPFSEQGTEE
VKKLLLLLLGCAVQCQKKEEFIERIQGLDFDTKAAVAAHIQEVTHNQENVFDLQWMEVTD
MSQEDIEPLLKNMALHLKRLIDERDEHSETIIELSEERDGLHFLPHASSSAQSPCGSPGM
KRTESRQHLSVELADAKAKIRRLRQELEEKTEQLLDCKQELEQMEIELKRLQQENMNLLS
DARSARMYRDELDALREKAVRVDKLESEVSRYKERLHDIEFYKARVEELKEDNQVLLETK
TMLEDQLEGTRARSDKLHELEKENLQLKAKLHDMEMERDMDRKKIEELMEENMTLEMAQK
QSMDESLHLGWELEQISRTSELSEAPQKSLGHEVNELTSSRLLKLEMENQSLTKTVEELR
TTVDSVEGNASKILKMEKENQRLSKKVEILENEIVQEKQSLQNCQNLSKDLMKEKAQLEK
TIETLRENSERQIKILEQENEHLNQTVSSLRQRSQISAEARVKDIEKENKILHESIKETS
SKLSKIEFEKRQIKKELEHYKEKGERAEELENELHHLEKENELLQKKITNLKITCEKIEA
LEQENSELERENRKLKKTLDSFKNLTFQLESLEKENSQLDEENLELRRNVESLKCASMKM
AQLQLENKELESEKEQLKKGLELLKASFKKTERLEVSYQGLDIENQRLQKTLENSNKKIQ
QLESELQDLEMENQTLQKNLEELKISSKRLEQLEKENKSLEQETSQLEKDKKQLEKENKR
LRQQAEIKDTTLEENNVKIGNLEKENKTLSKEIGIYKESCVRLKELEKENKELVKRATID
IKTLVTLREDLVSEKLKTQQMNNDLEKLTHELEKIGLNKERLLHDEQSTDDSRYKLLESK
LESTLKKSLEIKEEKIAALEARLEESTNYNQQLRQELKTVKKNYEALKQRQDEERMVQSS
PPISGEDNKWERESQETTRELLKVKDRLIEVERNNATLQAEKQALKTQLKQLETQNNNLQ
AQILALQRQTVSLQEQNTTLQTQNAKLQVENSTLNSQSTSLMNQNAQLLIQQSSLENENE
SVIKEREDLKSLYDSLIKDHEKLELLHERQASEYESLISKHGTLKSAHKNLEVEHRDLED
RYNQLLKQKGQLEDLEKMLKVEQEKMLLENKNHETVAAEYKKLCGENDRLNHTYSQLLKE
TEVLQTDHKNLKSLLNNSKLEQTRLEAEFSKLKEQYQQLDITSTKLNNQCELLSQLKGNL
EEENRHLLDQIQTLMLQNRTLLEQNMESKDLFHVEQRQYIDKLNELRRQKEKLEEKIMDQ
YKFYDPSPPRRRGNWITLKMRKLIKSKKDINRERQKSLTLTPTRSDSSEGFLQLPHQDSQ
DSSSVGSNSLEDGQTLGTKKSSMVALKRLPFLRNRPKDKDKMKACYRRSMSMNDLVQSMV
LAGQWTGSTENLEVPDDISTGKRRKELGAMAFSTTAINFSTVNSSAGFRSKQLVNNKDTT
SFEDISPQGVSDDSSTGSRVHASRPASLDSGRTSTSNSNNNASLHEVKAGAVNNQSRPQS
HSSGEFSLLHDHEAWSSSGSSPIQYLKRQTRSSPVLQHKISETLESRHHKIKTGSPGSEV
VTLQQFLEESNKLTSVQIKSSSQENLLDEVMKSLSVSSDFLGKDKPVSCGLARSVSGKTP
GDFYDRRTTKPEFLRPGPRKTEDTYFISSAGKPTPGTQGKIKLVKESSLSRQSKDSNPYA
TLPRASSVISTAEGTTRRTSIHDFLTKDSRLPISVDSPPAAADSNTTAASNVDKVQESRN
SKSRSREQQSS

Sequence length

1871

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
PEHO-like syndrome	Pathogenic	rs2104690231, rs2104596456, rs879255649	RCV004783994 RCV004784018 RCV000239462	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCDC88A-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental delay	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEHO syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (79)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	19414392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	11846302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	12230304, 9507962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	24718706, 27975172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36329890, 39334473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23066027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23066027, 27440794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19414392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25755745, 26743900, 27623945, 28810896, 33660763, 34190023, 35493459, 35960100	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29456687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27919290, 32467989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17630376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	39334473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20974669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20974669, 22714912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20974669, 25009397, 27029492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	39334473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36329890	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	39334473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	39334473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32583631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25043713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	17854042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24288520, 26151295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	19711438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	34190023	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	20974669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	40401444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28800425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25109342, 28810896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28810896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35770962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	39334473, 40401444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27440794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29456687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23066027, 25109342, 26224586, 31736058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20974669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31554846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	30392057		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	40401444	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor neuron atrophy	Motor neuron atrophy	BEFREE	12230304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14599768, 17614107, 20974669, 21546796, 25795305, 26743900, 27900675, 29079220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	40401444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36329890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26524953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37532779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27919290, 30358104, 32467989, 37503752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32369440	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PEHO syndrome	PEHO Syndrome	BEFREE	26917597, 30392057		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEHO syndrome	PEHO Syndrome	GENOMICS_ENGLAND_DG	26917597		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEHO syndrome	Peho syndrome	Pubtator	39334473	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEHO-like syndrome	PEHO-Like Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome	Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome	BEFREE	12949965, 26917597, 30392057, 31048081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome	Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome	ORPHANET_DG	26917597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome	Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome	GENOMICS_ENGLAND_DG	26917597, 30392057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29665309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11846302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	40401444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	39334473, 40401444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	39334473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	15887293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17614107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35770962, 36604355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	29053659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	27029492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29609002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	29199612		★★★★★ ★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	29199612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30536309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	26917597		★★★★★ ★☆☆☆☆ Found in Text Mining only

CCDC88A (coiled-coil and HOOK domain protein 88A)