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	9871
Gene name	SEC24 homolog D, COPII component
Gene symbol	SEC24D
Synonyms (NCBI Gene)	CLCRP2
Chromosome	4
Chromosome location	4q26
Summary	The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible f

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SNP ID	Visualize variation	Clinical significance	Consequence
rs148676365	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs730882211	C>G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs759594785	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs760670617	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs786204845	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs786204846	T>G	Pathogenic	Coding sequence variant, missense variant
rs1175597762	A>G	Pathogenic	Coding sequence variant, missense variant
rs1182434832	C>T	Pathogenic	Missense variant, coding sequence variant
rs1372766642	G>A	Pathogenic	Coding sequence variant, stop gained
rs1578383414	C>A	Pathogenic	Coding sequence variant, missense variant
rs1578456973	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant

210

Show/Hide all (210)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001230	hsa-miR-605-5p	qRT-PCRWestern blot	19336450
MIRT001230	hsa-miR-605-5p	qRT-PCRWestern blot	19336450
MIRT016795	hsa-miR-335-5p	Microarray	18185580
MIRT022130	hsa-miR-124-3p	Microarray	18668037
MIRT024462	hsa-miR-215-5p	Microarray	19074876
MIRT026143	hsa-miR-192-5p	Microarray	19074876
MIRT676394	hsa-miR-1245a	HITS-CLIP	23824327
MIRT676393	hsa-miR-8079	HITS-CLIP	23824327
MIRT676392	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT676391	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676390	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT676389	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676388	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT676387	hsa-miR-4635	HITS-CLIP	23824327
MIRT676386	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676385	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676384	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676383	hsa-miR-4312	HITS-CLIP	23824327
MIRT678137	hsa-miR-6131	HITS-CLIP	23824327
MIRT676380	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676379	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676378	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676377	hsa-miR-640	HITS-CLIP	23824327
MIRT676394	hsa-miR-1245a	HITS-CLIP	23824327
MIRT676393	hsa-miR-8079	HITS-CLIP	23824327
MIRT676392	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT676391	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676390	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT676389	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676388	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT676387	hsa-miR-4635	HITS-CLIP	23824327
MIRT676386	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676385	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676384	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676383	hsa-miR-4312	HITS-CLIP	23824327
MIRT676382	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT676381	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT676380	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676379	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676378	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676377	hsa-miR-640	HITS-CLIP	23824327
MIRT676376	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT636257	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT636256	hsa-miR-511-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT609760	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT636256	hsa-miR-511-5p	HITS-CLIP	27418678
MIRT636257	hsa-miR-6830-3p	HITS-CLIP	27418678
MIRT676394	hsa-miR-1245a	HITS-CLIP	23824327
MIRT676393	hsa-miR-8079	HITS-CLIP	23824327
MIRT676392	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT676391	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676390	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT676389	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676388	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT676387	hsa-miR-4635	HITS-CLIP	23824327
MIRT676386	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676385	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676384	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676383	hsa-miR-4312	HITS-CLIP	23824327
MIRT678137	hsa-miR-6131	HITS-CLIP	23824327
MIRT676380	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676379	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676378	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676377	hsa-miR-640	HITS-CLIP	23824327
MIRT676394	hsa-miR-1245a	HITS-CLIP	23824327
MIRT676393	hsa-miR-8079	HITS-CLIP	23824327
MIRT676392	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT676391	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676390	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT676389	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676388	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT676387	hsa-miR-4635	HITS-CLIP	23824327
MIRT676386	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT676385	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676384	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676383	hsa-miR-4312	HITS-CLIP	23824327
MIRT676382	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT676381	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT676380	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676379	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT676378	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT676377	hsa-miR-640	HITS-CLIP	23824327
MIRT676376	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT636257	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT636256	hsa-miR-511-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT609760	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT1333236	hsa-miR-19a	CLIP-seq
MIRT1333237	hsa-miR-19b	CLIP-seq
MIRT1333238	hsa-miR-29a	CLIP-seq
MIRT1333239	hsa-miR-29b	CLIP-seq
MIRT1333240	hsa-miR-29c	CLIP-seq
MIRT1333241	hsa-miR-3119	CLIP-seq
MIRT1333242	hsa-miR-3143	CLIP-seq
MIRT1333243	hsa-miR-3144-3p	CLIP-seq
MIRT1333244	hsa-miR-320a	CLIP-seq
MIRT1333245	hsa-miR-320b	CLIP-seq
MIRT1333246	hsa-miR-320c	CLIP-seq
MIRT1333247	hsa-miR-320d	CLIP-seq
MIRT1333248	hsa-miR-3663-3p	CLIP-seq
MIRT1333249	hsa-miR-3927	CLIP-seq
MIRT1333250	hsa-miR-4429	CLIP-seq
MIRT1333251	hsa-miR-4528	CLIP-seq
MIRT1333252	hsa-miR-4650-3p	CLIP-seq
MIRT1333253	hsa-miR-4698	CLIP-seq
MIRT1333254	hsa-miR-4738-3p	CLIP-seq
MIRT1333255	hsa-miR-548c-3p	CLIP-seq
MIRT1333256	hsa-miR-548g	CLIP-seq
MIRT1333257	hsa-miR-552	CLIP-seq
MIRT1333258	hsa-miR-607	CLIP-seq
MIRT1333259	hsa-miR-875-5p	CLIP-seq
MIRT1333260	hsa-miR-885-5p	CLIP-seq
MIRT2098541	hsa-miR-1236	CLIP-seq
MIRT2098542	hsa-miR-1343	CLIP-seq
MIRT1333242	hsa-miR-3143	CLIP-seq
MIRT2098543	hsa-miR-3168	CLIP-seq
MIRT2098544	hsa-miR-3647-3p	CLIP-seq
MIRT2098545	hsa-miR-3690	CLIP-seq
MIRT2098546	hsa-miR-3978	CLIP-seq
MIRT2098547	hsa-miR-4254	CLIP-seq
MIRT2098548	hsa-miR-4328	CLIP-seq
MIRT2098549	hsa-miR-4670-3p	CLIP-seq
MIRT2098550	hsa-miR-4766-5p	CLIP-seq
MIRT2098551	hsa-miR-4778-5p	CLIP-seq
MIRT2098552	hsa-miR-4799-5p	CLIP-seq
MIRT2098553	hsa-miR-875-3p	CLIP-seq
MIRT2432956	hsa-miR-3133	CLIP-seq
MIRT1333242	hsa-miR-3143	CLIP-seq
MIRT2432957	hsa-miR-3148	CLIP-seq
MIRT2432958	hsa-miR-338-5p	CLIP-seq
MIRT1333249	hsa-miR-3927	CLIP-seq
MIRT2432959	hsa-miR-410	CLIP-seq
MIRT1333251	hsa-miR-4528	CLIP-seq
MIRT1333252	hsa-miR-4650-3p	CLIP-seq
MIRT1333253	hsa-miR-4698	CLIP-seq
MIRT2432960	hsa-miR-4731-3p	CLIP-seq
MIRT2432961	hsa-miR-4801	CLIP-seq
MIRT2432962	hsa-miR-4803	CLIP-seq
MIRT2432963	hsa-miR-520d-5p	CLIP-seq
MIRT2432964	hsa-miR-524-5p	CLIP-seq
MIRT1333257	hsa-miR-552	CLIP-seq
MIRT1333258	hsa-miR-607	CLIP-seq
MIRT2098553	hsa-miR-875-3p	CLIP-seq
MIRT1333260	hsa-miR-885-5p	CLIP-seq
MIRT2440076	hsa-miR-1284	CLIP-seq
MIRT2440077	hsa-miR-4762-5p	CLIP-seq
MIRT2440078	hsa-miR-549	CLIP-seq
MIRT2440076	hsa-miR-1284	CLIP-seq
MIRT2619095	hsa-miR-186	CLIP-seq
MIRT2619096	hsa-miR-203	CLIP-seq
MIRT2619097	hsa-miR-30a	CLIP-seq
MIRT2619098	hsa-miR-30b	CLIP-seq
MIRT2619099	hsa-miR-30c	CLIP-seq
MIRT2619100	hsa-miR-30d	CLIP-seq
MIRT2619101	hsa-miR-30e	CLIP-seq
MIRT2432956	hsa-miR-3133	CLIP-seq
MIRT2619102	hsa-miR-3152-5p	CLIP-seq
MIRT2619103	hsa-miR-3607-3p	CLIP-seq
MIRT2098544	hsa-miR-3647-3p	CLIP-seq
MIRT2619104	hsa-miR-3686	CLIP-seq
MIRT2098548	hsa-miR-4328	CLIP-seq
MIRT2619105	hsa-miR-4461	CLIP-seq
MIRT2440077	hsa-miR-4762-5p	CLIP-seq
MIRT2619106	hsa-miR-4774-3p	CLIP-seq
MIRT2440078	hsa-miR-549	CLIP-seq
MIRT2619107	hsa-miR-580	CLIP-seq
MIRT2619108	hsa-miR-582-5p	CLIP-seq
MIRT2619109	hsa-miR-584	CLIP-seq
MIRT2619110	hsa-miR-654-3p	CLIP-seq
MIRT2440076	hsa-miR-1284	CLIP-seq
MIRT2619095	hsa-miR-186	CLIP-seq
MIRT2619096	hsa-miR-203	CLIP-seq
MIRT2619097	hsa-miR-30a	CLIP-seq
MIRT2619098	hsa-miR-30b	CLIP-seq
MIRT2619099	hsa-miR-30c	CLIP-seq
MIRT2619100	hsa-miR-30d	CLIP-seq
MIRT2619101	hsa-miR-30e	CLIP-seq
MIRT2432956	hsa-miR-3133	CLIP-seq
MIRT2619102	hsa-miR-3152-5p	CLIP-seq
MIRT2619103	hsa-miR-3607-3p	CLIP-seq
MIRT2098544	hsa-miR-3647-3p	CLIP-seq
MIRT2619104	hsa-miR-3686	CLIP-seq
MIRT2098548	hsa-miR-4328	CLIP-seq
MIRT2619105	hsa-miR-4461	CLIP-seq
MIRT2440077	hsa-miR-4762-5p	CLIP-seq
MIRT2619106	hsa-miR-4774-3p	CLIP-seq
MIRT2440078	hsa-miR-549	CLIP-seq
MIRT2619107	hsa-miR-580	CLIP-seq
MIRT2619108	hsa-miR-582-5p	CLIP-seq
MIRT2619109	hsa-miR-584	CLIP-seq
MIRT2619110	hsa-miR-654-3p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0000149	Function	SNARE binding	IEA
GO:0000149	Function	SNARE binding	IPI	18843296
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 18843296, 21516116, 24405750, 25416956, 27802162, 31515488, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	20427317
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	NAS	10329445
GO:0008270	Function	Zinc ion binding	IBA
GO:0008270	Function	Zinc ion binding	IDA	18843296
GO:0008270	Function	Zinc ion binding	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030127	Component	COPII vesicle coat	IBA
GO:0030127	Component	COPII vesicle coat	IDA	17499046
GO:0030127	Component	COPII vesicle coat	IEA
GO:0030127	Component	COPII vesicle coat	NAS	10329445
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070971	Component	Endoplasmic reticulum exit site	IBA
GO:0090110	Process	COPII-coated vesicle cargo loading	IBA
GO:0090110	Process	COPII-coated vesicle cargo loading	IDA	17499046, 18843296
GO:0090110	Process	COPII-coated vesicle cargo loading	IEA

MIM	HGNC	e!Ensembl
607186	10706	ENSG00000150961

O94855

Protein name

Protein transport protein Sec24D (SEC24-related protein D)

Protein function

Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicle

PDB

3EFO , 3EG9 , 5KYU , 5KYW , 5KYX , 5KYY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04810	zf-Sec23_Sec24	360 → 398	Sec23/Sec24 zinc finger	Domain
PF04811	Sec23_trunk	437 → 681	Sec23/Sec24 trunk domain	Domain
PF08033	Sec23_BS	686 → 770	Sec23/Sec24 beta-sandwich domain	Domain
PF04815	Sec23_helical	781 → 883	Sec23/Sec24 helical domain	Domain
PF00626	Gelsolin	899 → 974	Gelsolin repeat	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with higher amounts in placenta, pancreas, heart and liver. {ECO:0000269|PubMed:10329445}.

Sequence

MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPG
PPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQL
GSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQPSILQPGSQVLPPPPTTLNG
PGASPLPLPMYRPDGLSGPPPPNAQYQPPPLPGQTLGAGYPPQQANSGPQMAGAQLSYPG
GFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRASRGGQVYATNTRGQIPPLVTTDCM
IQDQGNASPRFIRCTTYCFPCTSDMAKQAQIPLAAVIKPFATIPSNESPLYLVNHGESGP
VRCNRCKAYMCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLG
SYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEET
SAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLL
DQIPDMFADSNENETVFAPVIQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKK
LVNTDKEKILFQPQTNVYDSLAKDCVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYK
YNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAA
IDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSC
ETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMK
VLPVYMNCLLKNCVLLSRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKST
MLPAAVRCSESRLSEEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLP
EVGNPYSQQLRMIMGIIQQKRPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFL
CCVHKEICQLLN

Sequence length

1032

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum Pathogenic Escherichia coli infection		COPII-mediated vesicle transport MHC class II antigen presentation Cargo concentration in the ER Antigen Presentation: Folding, assembly and peptide loading of class I MHC

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cole-Carpenter syndrome 2	Pathogenic; Likely pathogenic	rs760670617, rs786204845, rs786204846, rs2530136674, rs1726439532, rs2530206539, rs759594785, rs1578383414, rs1182434832, rs1578456973, rs1372766642	RCV000169755 RCV000169756 RCV000169757 RCV003445422 RCV003445429 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEC24D-related disorder	Likely pathogenic; Pathogenic	rs769202646	RCV003409935	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (31)

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	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLE CARPENTER SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLE-CARPENTER SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 1	—	Orphanet Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ 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
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acrocephaly	Acrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cole Carpenter syndrome	Cole Carpenter Syndrome	GENOMICS_ENGLAND_DG	25683121		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole Carpenter syndrome	Cole Carpenter Syndrome	ORPHANET_DG	25683121		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole Carpenter syndrome	Cole Carpenter Syndrome	BEFREE	30462379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole Carpenter syndrome	Cole Carpenter Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cole-Carpenter syndrome	Cole Carpenter Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLE-CARPENTER SYNDROME 2	Cole Carpenter Syndrome	UNIPROT_DG	25683121		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COLE-CARPENTER SYNDROME 2	Cole Carpenter Syndrome	GENOMICS_ENGLAND_DG	25683121, 27942778		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COLE-CARPENTER SYNDROME 2	Cole Carpenter Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Communicating Hydrocephalus	Communicating Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome 6B	Ehlers-Danlos Syndrome	BEFREE	27032025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31761927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31761927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	26431026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31761927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	25948407		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	25683121, 27942778, 30462379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SEC24D (SEC24 homolog D, COPII component)