TRAPPC9 (trafficking protein particle complex subunit 9)

Gene

• Entrez ID: 83696
• Gene name: Trafficking protein particle complex subunit 9
• Gene symbol: TRAPPC9
• Synonyms (NCBI Gene): IBP, IKBKBBP, MRT13, NIBP, T1, TRS120
• Chromosome: 8
• Chromosome location: 8q24.3
• Summary: This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146235874	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs267607136	G>A,C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, coding sequence variant
rs267607137	G>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, intron variant, coding sequence variant
rs373701249	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs539016732	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs587780486	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs755371528	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs786205595	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1174482090	->GATC	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1465738840	C>T	Likely-pathogenic	Splice acceptor variant
rs1554632235	GTAGTT>TTAGTC	Likely-pathogenic	Coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1554689877	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1554689964	GGCCAGT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1587520018	T>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1588295226	TT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1588397346	->CCTCACGGTACCCCCGTGAC	Pathogenic	5 prime UTR variant, frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048179	hsa-miR-196a-5p	CLASH	23622248
MIRT044131	hsa-miR-30e-5p	CLASH	23622248
MIRT495659	hsa-miR-583	PAR-CLIP	22291592
MIRT495658	hsa-miR-6873-5p	PAR-CLIP	22291592
MIRT495657	hsa-miR-3126-5p	PAR-CLIP	22291592
MIRT495656	hsa-miR-6875-5p	PAR-CLIP	22291592
MIRT495659	hsa-miR-583	PAR-CLIP	22291592
MIRT495658	hsa-miR-6873-5p	PAR-CLIP	22291592
MIRT495657	hsa-miR-3126-5p	PAR-CLIP	22291592
MIRT495656	hsa-miR-6875-5p	PAR-CLIP	22291592
MIRT495659	hsa-miR-583	PAR-CLIP	22291592
MIRT495658	hsa-miR-6873-5p	PAR-CLIP	22291592
MIRT495657	hsa-miR-3126-5p	PAR-CLIP	22291592
MIRT495656	hsa-miR-6875-5p	PAR-CLIP	22291592
MIRT495659	hsa-miR-583	PAR-CLIP	22291592
MIRT495658	hsa-miR-6873-5p	PAR-CLIP	22291592
MIRT495657	hsa-miR-3126-5p	PAR-CLIP	22291592
MIRT495656	hsa-miR-6875-5p	PAR-CLIP	22291592
MIRT1452252	hsa-miR-1273f	CLIP-seq
MIRT1452253	hsa-miR-1275	CLIP-seq
MIRT1452254	hsa-miR-3150b-3p	CLIP-seq
MIRT1452255	hsa-miR-3675-5p	CLIP-seq
MIRT1452256	hsa-miR-4283	CLIP-seq
MIRT1452257	hsa-miR-4489	CLIP-seq
MIRT1452258	hsa-miR-4525	CLIP-seq
MIRT1452259	hsa-miR-4665-5p	CLIP-seq
MIRT1452260	hsa-miR-4723-5p	CLIP-seq
MIRT1452261	hsa-miR-4784	CLIP-seq
MIRT1452262	hsa-miR-625	CLIP-seq
MIRT1452263	hsa-miR-637	CLIP-seq
MIRT1452264	hsa-miR-765	CLIP-seq
MIRT1452254	hsa-miR-3150b-3p	CLIP-seq
MIRT1452265	hsa-miR-3928	CLIP-seq
MIRT1452266	hsa-miR-4446-3p	CLIP-seq
MIRT1452267	hsa-miR-4459	CLIP-seq
MIRT1452268	hsa-miR-4492	CLIP-seq
MIRT1452269	hsa-miR-4498	CLIP-seq
MIRT1452270	hsa-miR-4700-3p	CLIP-seq
MIRT1452271	hsa-miR-4721	CLIP-seq
MIRT1452261	hsa-miR-4784	CLIP-seq
MIRT1452272	hsa-miR-762	CLIP-seq
MIRT1452264	hsa-miR-765	CLIP-seq
MIRT2356525	hsa-miR-1291	CLIP-seq
MIRT2356526	hsa-miR-221	CLIP-seq
MIRT2356527	hsa-miR-222	CLIP-seq
MIRT2356528	hsa-miR-3176	CLIP-seq
MIRT2356529	hsa-miR-328	CLIP-seq
MIRT2356530	hsa-miR-3689a-3p	CLIP-seq
MIRT2356531	hsa-miR-3689c	CLIP-seq
MIRT2356532	hsa-miR-3922-3p	CLIP-seq
MIRT1452265	hsa-miR-3928	CLIP-seq
MIRT2356533	hsa-miR-4455	CLIP-seq
MIRT1452267	hsa-miR-4459	CLIP-seq
MIRT2356534	hsa-miR-4520a-5p	CLIP-seq
MIRT2356535	hsa-miR-4520b-5p	CLIP-seq
MIRT2356536	hsa-miR-4648	CLIP-seq
MIRT2356537	hsa-miR-4654	CLIP-seq
MIRT1452270	hsa-miR-4700-3p	CLIP-seq
MIRT2356538	hsa-miR-4728-5p	CLIP-seq
MIRT2356539	hsa-miR-4769-5p	CLIP-seq
MIRT2356540	hsa-miR-545	CLIP-seq
MIRT2356541	hsa-miR-548v	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21525244, 21858081, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	27066478
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	NAS	27066478
GO:0006901	Process	Vesicle coating	NAS	27066478
GO:0021987	Process	Cerebral cortex development	IMP	20004763
GO:0030008	Component	TRAPP complex	IDA	21525244
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0099022	Process	Vesicle tethering	NAS	27066478
GO:1990071	Component	TRAPPII protein complex	NAS	27066478

Other IDs

• MIM: 611966
• HGNC: 30832
• e!Ensembl: ENSG00000167632

Protein

• UniProt ID: Q96Q05
• Protein name: Trafficking protein particle complex subunit 9 (NIK- and IKBKB-binding protein) (Tularik gene 1 protein)
• Protein function: Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi. {ECO:0000269|PubMed:1595144
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08626	TRAPPC9-Trs120	158 → 357	Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit	Family
  PF08626	TRAPPC9-Trs120	346 → 673	Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in muscle and kidney and to a lower extent in brain, heart and placenta. {ECO:0000269|PubMed:15951441}.
• Sequence:

  MSVPDYMQCAEDHQTLLVVVQPVGIVSEENFFRIYKRICSVSQISVRDSQRVLYIRYRHH
  YPPENNEWGDFQTHRKVVGLITITDCFSAKDWPQTFEKFHVQKEIYGSTLYDSRLFVFGL
  QGEIVEQPRTDVAFYPNYEDCQTVEKRIEDFIESLFIVLESKRLDRATDKSGDKIPLLCV
  PFEKKDFVGLDTDSRHYKKRCQGRMRKHVGDLCLQAGMLQDSLVHYHMSVELLRSVNDFL
  WLGAALEGLCSASVIYHYPGGTGGKSGARRFQGSTLPAEAANRHRPGAQEVLIDPGALTT
  NGINPDTSTEIGRAKNCLSPEDIIDKYKEAISYYSKYKNAGVIELEACIKAVRVLAIQKR
  SMEASEFLQNAVYINLRQLSEEEKIQRYSILSELYELIGFHRKSAFFKRVAAMQCVAPSI
  AEPGWRACYKLLLETLPGYSLSLDPKDFSRGTHRGWAAVQMRLLHELVYASRRMGNPALS
  VRHLSFLLQTMLDFLSDQEKKDVAQSLENYTSKCPGTMEPIALPGGLTLPPVPFTKLPIV
  RHVKLLNLPASLRPHKMKSLLGQNVSTKSPFIYSPIIAHNRGEERNKKIDFQWVQGDVCE
  VQLMVYNPMPFELRVENMGLLTSGVEFESLPAALSLPAESGLYPVTLVGVPQTTGTITVN
  GYHTTVFGVFSDCLLDNLPGIKTSGSTVEVIPALPRLQISTSLPRSAHSLQPSSGDEIST
  NVSVQLYNGESQQLIIKLENIGMEPLEKLEVTSKVLTTKEKLYGDFLSWKLEETLAQFPL
  QPGKVATFTINIKVKLDFSCQENLLQDLSDDGISVSGFPLSSPFRQVVRPRVEGKPVNPP
  ESNKAGDYSHVKTLEAVLNFKYSGGPGHTEGYYRNLSLGLHVEVEPSVFFTRVSTLPATS
  TRQCHLLLDVFNSTEHELTVSTRSSEALILHAGECQRMAIQVDKFNFESFPESPGEKGQF
  ANPKQLEEERREARGLEIHSKLGICWRIPSLKRSGEASVEGLLNQLVLEHLQLAPLQWDV
  LVDGQPCDREAVAACQVGDPVRLEVRLTNRSPRSVGPFALTVVPFQDHQNGVHNYDLHDT
  VSFVGSSTFYLDAVQPSGQSACLGALLFLYTGDFFLHIRFHEDSTSKELPPSWFCLPSVH
  VCALEAQA

• Sequence length: 1148

Pathways

Reactome:

COPII-mediated vesicle transport
RAB GEFs exchange GTP for GDP on RABs

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
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs2131117340, rs267607136, rs373701249	RCV001814413 RCV001813926 RCV001836911	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Pathogenic	rs752040819	RCV003127735	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive non-syndromic intellectual disability	Pathogenic	rs2131714597	RCV002243541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2071449158	RCV001260866	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 13	Pathogenic; Likely pathogenic	rs765943218, rs587780486, rs781469639, rs267607136, rs267607137, rs2131714307, rs2131922149, rs1489634479, rs2065638761, rs779744636, rs774787025, rs786205595, rs2539628652, rs2489805216, rs2539378745, rs2065096453, rs1377398622, rs2540545009, rs2538961463, rs2540546209, rs2539378902, rs1554689877, rs1174482090, rs766614772, rs1587520018, rs373701249, rs1357591960, rs752040819, rs2539627983, rs2071449158, rs2131321455	RCV001785082 RCV000118683 RCV005238107 RCV000000794 RCV000000795 RCV000000796 RCV002227923 RCV002246785 RCV002289409 RCV002308532 RCV002471718 RCV003984824 RCV003226044 RCV003226102 RCV003336627 RCV003405213 RCV004690449 RCV003988328 RCV003988934 RCV004577426 RCV004585208 RCV000499511 RCV000501638 RCV001336731 RCV000034319 RCV004029278 RCV000985089 RCV001255732 RCV001255740 RCV001328632 RCV001374749	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Pathogenic	rs889624353	RCV001252379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs2071449158	RCV005909270	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRAPPC9-related disorder	Likely pathogenic; Pathogenic	rs2540231164, rs1554689964	RCV003896290 RCV003419847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILE DUCT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ 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; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ 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	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY, OBESITY, BRAIN MALFORMATION, FACIAL DYSMORPHISM SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability, Recessive	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
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALUNION FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13	—	CTD	★★☆☆☆ 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; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	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	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	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
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28125661		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	27108886	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34440432	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	27108886	Associate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24776741	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachycephaly	Brachycephaly	BEFREE	27108886		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22549410, 29187737, 33513295	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23975422		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19034969	Associate	★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	27108886	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22549410	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	22989526		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26596835, 27109343, 30272317		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26596835, 27109343, 28125661		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	35042660	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	34937574	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	27108886	Associate	★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	36348459	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29391579, 33513295	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	27108886	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	27669027	Associate	★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	BEFREE	27782870		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	27108886	Associate	★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20425834		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33208564	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22989526		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20004763, 20004765, 21858081, 22549410, 22989526, 24040793, 24776741, 29031008, 29187737, 30272317		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20004764, 20004765, 21513506, 21629298, 22549410, 24776741, 27108886, 29187737, 29391579, 32162493, 33513295, 35042660, 36348459, 36672789	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Disorders	Language development disorders	Pubtator	29187737	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	29620292		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23975422		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29620292		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29620292		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26596835, 27109343, 30272317		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20004765, 21858081, 24040793, 29031008, 30272317		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13	Mental retardation	GENOMICS_ENGLAND_DG	20004764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	20004763, 20004764, 21858081, 22989526, 27108886, 29693325		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	20004764, 20004765, 27108886, 29187737, 33513295	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23412934		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23412934	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26596835, 29620292		★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28918882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	22549410, 29187737	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	27669027	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	29031008		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	BEFREE	21858081		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29620292		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	20198315		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome Type ID	Usher syndrome	Pubtator	27108886	Associate	★☆☆☆☆ Found in Text Mining only