Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	146059
Gene name	Codanin 1
Gene symbol	CDAN1
Synonyms (NCBI Gene)	CDA1CDAICDAN1ADLTPRO1295
Chromosome	15
Chromosome location	15q15.2
Summary	This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functiona

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338694	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs80338696	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs80338697	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs80338699	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs113313967	C>T	Pathogenic	Intron variant
rs120074166	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs120074167	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs120074168	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs120074169	AAC>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs138334226	G>A,C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs140334403	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs769679860	->A	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1223300626	->AA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1336651679	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555414654	->GGC	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant

159

Show/Hide all (159)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047385	hsa-miR-34a-5p	CLASH	23622248
MIRT037638	hsa-miR-744-5p	CLASH	23622248
MIRT876699	hsa-miR-106a	CLIP-seq
MIRT876700	hsa-miR-106b	CLIP-seq
MIRT876701	hsa-miR-1200	CLIP-seq
MIRT876702	hsa-miR-1273f	CLIP-seq
MIRT876703	hsa-miR-17	CLIP-seq
MIRT876704	hsa-miR-1972	CLIP-seq
MIRT876705	hsa-miR-1976	CLIP-seq
MIRT876706	hsa-miR-20a	CLIP-seq
MIRT876707	hsa-miR-20b	CLIP-seq
MIRT876708	hsa-miR-2682	CLIP-seq
MIRT876709	hsa-miR-302a	CLIP-seq
MIRT876710	hsa-miR-302b	CLIP-seq
MIRT876711	hsa-miR-302c	CLIP-seq
MIRT876712	hsa-miR-302d	CLIP-seq
MIRT876713	hsa-miR-302e	CLIP-seq
MIRT876714	hsa-miR-3170	CLIP-seq
MIRT876715	hsa-miR-3187-3p	CLIP-seq
MIRT876716	hsa-miR-329	CLIP-seq
MIRT876717	hsa-miR-362-3p	CLIP-seq
MIRT876718	hsa-miR-3663-5p	CLIP-seq
MIRT876719	hsa-miR-371-5p	CLIP-seq
MIRT876720	hsa-miR-371b-5p	CLIP-seq
MIRT876721	hsa-miR-372	CLIP-seq
MIRT876722	hsa-miR-373	CLIP-seq
MIRT876723	hsa-miR-3973	CLIP-seq
MIRT876724	hsa-miR-411	CLIP-seq
MIRT876725	hsa-miR-4269	CLIP-seq
MIRT876726	hsa-miR-4324	CLIP-seq
MIRT876727	hsa-miR-4435	CLIP-seq
MIRT876728	hsa-miR-4438	CLIP-seq
MIRT876729	hsa-miR-449c	CLIP-seq
MIRT876730	hsa-miR-4514	CLIP-seq
MIRT876731	hsa-miR-4635	CLIP-seq
MIRT876732	hsa-miR-4650-5p	CLIP-seq
MIRT876733	hsa-miR-4659a-5p	CLIP-seq
MIRT876734	hsa-miR-4659b-5p	CLIP-seq
MIRT876735	hsa-miR-4692	CLIP-seq
MIRT876736	hsa-miR-4701-5p	CLIP-seq
MIRT876737	hsa-miR-4708-5p	CLIP-seq
MIRT876738	hsa-miR-4716-5p	CLIP-seq
MIRT876739	hsa-miR-4722-3p	CLIP-seq
MIRT876740	hsa-miR-4731-5p	CLIP-seq
MIRT876741	hsa-miR-4742-5p	CLIP-seq
MIRT876742	hsa-miR-4755-3p	CLIP-seq
MIRT876743	hsa-miR-4757-5p	CLIP-seq
MIRT876744	hsa-miR-4776-3p	CLIP-seq
MIRT876745	hsa-miR-4781-3p	CLIP-seq
MIRT876746	hsa-miR-4793-5p	CLIP-seq
MIRT876747	hsa-miR-5095	CLIP-seq
MIRT876748	hsa-miR-512-3p	CLIP-seq
MIRT876749	hsa-miR-519d	CLIP-seq
MIRT876750	hsa-miR-520a-3p	CLIP-seq
MIRT876751	hsa-miR-520b	CLIP-seq
MIRT876752	hsa-miR-520c-3p	CLIP-seq
MIRT876753	hsa-miR-520d-3p	CLIP-seq
MIRT876754	hsa-miR-520e	CLIP-seq
MIRT876755	hsa-miR-520g	CLIP-seq
MIRT876756	hsa-miR-520h	CLIP-seq
MIRT876757	hsa-miR-544b	CLIP-seq
MIRT876758	hsa-miR-548p	CLIP-seq
MIRT876759	hsa-miR-548s	CLIP-seq
MIRT876760	hsa-miR-588	CLIP-seq
MIRT876761	hsa-miR-93	CLIP-seq
MIRT876701	hsa-miR-1200	CLIP-seq
MIRT876725	hsa-miR-4269	CLIP-seq
MIRT1959785	hsa-miR-1183	CLIP-seq
MIRT876701	hsa-miR-1200	CLIP-seq
MIRT1959786	hsa-miR-133a	CLIP-seq
MIRT1959787	hsa-miR-133b	CLIP-seq
MIRT1959788	hsa-miR-146b-3p	CLIP-seq
MIRT1959789	hsa-miR-1914	CLIP-seq
MIRT1959790	hsa-miR-218	CLIP-seq
MIRT1959791	hsa-miR-3153	CLIP-seq
MIRT1959792	hsa-miR-3173-5p	CLIP-seq
MIRT876716	hsa-miR-329	CLIP-seq
MIRT1959793	hsa-miR-345	CLIP-seq
MIRT876717	hsa-miR-362-3p	CLIP-seq
MIRT1959794	hsa-miR-365	CLIP-seq
MIRT876725	hsa-miR-4269	CLIP-seq
MIRT1959795	hsa-miR-4281	CLIP-seq
MIRT876726	hsa-miR-4324	CLIP-seq
MIRT876728	hsa-miR-4438	CLIP-seq
MIRT1959796	hsa-miR-4799-5p	CLIP-seq
MIRT876747	hsa-miR-5095	CLIP-seq
MIRT876757	hsa-miR-544b	CLIP-seq
MIRT1959797	hsa-miR-563	CLIP-seq
MIRT1959798	hsa-miR-627	CLIP-seq
MIRT1959799	hsa-miR-636	CLIP-seq
MIRT1959800	hsa-miR-874	CLIP-seq
MIRT1959801	hsa-miR-943	CLIP-seq
MIRT876701	hsa-miR-1200	CLIP-seq
MIRT2196839	hsa-miR-122	CLIP-seq
MIRT876702	hsa-miR-1273f	CLIP-seq
MIRT2196840	hsa-miR-1912	CLIP-seq
MIRT876704	hsa-miR-1972	CLIP-seq
MIRT876705	hsa-miR-1976	CLIP-seq
MIRT2196841	hsa-miR-3130-5p	CLIP-seq
MIRT876714	hsa-miR-3170	CLIP-seq
MIRT876715	hsa-miR-3187-3p	CLIP-seq
MIRT876716	hsa-miR-329	CLIP-seq
MIRT876717	hsa-miR-362-3p	CLIP-seq
MIRT876718	hsa-miR-3663-5p	CLIP-seq
MIRT876724	hsa-miR-411	CLIP-seq
MIRT876725	hsa-miR-4269	CLIP-seq
MIRT876726	hsa-miR-4324	CLIP-seq
MIRT876727	hsa-miR-4435	CLIP-seq
MIRT876728	hsa-miR-4438	CLIP-seq
MIRT2196842	hsa-miR-4452	CLIP-seq
MIRT2196843	hsa-miR-4463	CLIP-seq
MIRT2196844	hsa-miR-4466	CLIP-seq
MIRT2196845	hsa-miR-4482	CLIP-seq
MIRT2196846	hsa-miR-4494	CLIP-seq
MIRT876731	hsa-miR-4635	CLIP-seq
MIRT876732	hsa-miR-4650-5p	CLIP-seq
MIRT876733	hsa-miR-4659a-5p	CLIP-seq
MIRT876734	hsa-miR-4659b-5p	CLIP-seq
MIRT876736	hsa-miR-4701-5p	CLIP-seq
MIRT876738	hsa-miR-4716-5p	CLIP-seq
MIRT876739	hsa-miR-4722-3p	CLIP-seq
MIRT2196847	hsa-miR-4733-5p	CLIP-seq
MIRT876742	hsa-miR-4755-3p	CLIP-seq
MIRT876744	hsa-miR-4776-3p	CLIP-seq
MIRT876745	hsa-miR-4781-3p	CLIP-seq
MIRT876746	hsa-miR-4793-5p	CLIP-seq
MIRT876747	hsa-miR-5095	CLIP-seq
MIRT876757	hsa-miR-544b	CLIP-seq
MIRT876759	hsa-miR-548s	CLIP-seq
MIRT876760	hsa-miR-588	CLIP-seq
MIRT2196848	hsa-miR-675	CLIP-seq
MIRT876716	hsa-miR-329	CLIP-seq
MIRT876717	hsa-miR-362-3p	CLIP-seq
MIRT876725	hsa-miR-4269	CLIP-seq
MIRT876728	hsa-miR-4438	CLIP-seq
MIRT876747	hsa-miR-5095	CLIP-seq
MIRT876701	hsa-miR-1200	CLIP-seq
MIRT876716	hsa-miR-329	CLIP-seq
MIRT876717	hsa-miR-362-3p	CLIP-seq
MIRT876725	hsa-miR-4269	CLIP-seq
MIRT876726	hsa-miR-4324	CLIP-seq
MIRT876728	hsa-miR-4438	CLIP-seq
MIRT2500111	hsa-miR-4775	CLIP-seq
MIRT876747	hsa-miR-5095	CLIP-seq
MIRT876757	hsa-miR-544b	CLIP-seq
MIRT2500112	hsa-miR-590-3p	CLIP-seq
MIRT1959785	hsa-miR-1183	CLIP-seq
MIRT876701	hsa-miR-1200	CLIP-seq
MIRT2677799	hsa-miR-2278	CLIP-seq
MIRT876716	hsa-miR-329	CLIP-seq
MIRT1959793	hsa-miR-345	CLIP-seq
MIRT876717	hsa-miR-362-3p	CLIP-seq
MIRT876725	hsa-miR-4269	CLIP-seq
MIRT876726	hsa-miR-4324	CLIP-seq
MIRT876728	hsa-miR-4438	CLIP-seq
MIRT2677800	hsa-miR-498	CLIP-seq
MIRT876747	hsa-miR-5095	CLIP-seq
MIRT876757	hsa-miR-544b	CLIP-seq
MIRT1959801	hsa-miR-943	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
E2F1	Unknown	19336738

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22407294
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21364188, 22407294
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	22407294
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IBA
GO:0006325	Process	Chromatin organization	IMP	21364188
GO:0006325	Process	Chromatin organization	IMP	22407294
GO:0008104	Process	Intracellular protein localization	IMP	21364188
GO:0012505	Component	Endomembrane system	IDA	21364188
GO:0016020	Component	Membrane	IEA
GO:0051170	Process	Import into nucleus	IMP	22407294

MIM	HGNC	e!Ensembl
607465	1713	ENSG00000140326

Q8IWY9

Protein name

Codanin-1

Protein function

May act as a negative regulator of ASF1 in chromatin assembly.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15296	Codanin-1_C	784 → 899	Codanin-1 C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 3 is not found in erythroid cells. {ECO:0000269|PubMed:12434312}.

Sequence

MAAVLESLLREEVSVAAVVRWIARSTQGSEDNAGEAAALSSLRALRKEFVPFLLNFLREQ
SSRVLPQGPPTPAKTPGASAALPGRPGGPPRGSRGARSQLFPPTEAQSTAAEAPLARRGG
RRRGPGPARERGGRGLEEGVSGESLPGAGGRRLRGSGSPSRPSLTLSDPPNLSNLEEFPP
VGSVPPGPTGTKPSRRINPTPVSEERSLSKPKTCFTSPPISCVPSSQPSALDTSPWGLGL
PPGCRSLQEEREMLRKERSKQLQQSPTPTCPTPELGSPLPSRTGSLTDEPADPARVSSRQ
RLELVALVYSSCIAENLVPNLFLELFFVFQLLTARRMVTAKDSDPELSPAVLDSLESPLF
QSIHDCVFFAVQVLECHFQVLSNLDKGTLKLLAENERLLCFSPALQGRLRAAYEGSVAKV
SLVMPPSTQAVSFQPETDNRANFSSDRAFHTFKKQRDVFYEVLREWEDHHEEPGWDFEKG
LGSRIRAMMGQLSAACSHSHFVRLFQKQLLQMCQSPGGAGGTVLGEAPDVLSMLGADKLG
RLWRLQERLMAPQSSGGPCPPPTFPGCQGFFRDFILSASSFQFNQHLMDSLSLKIQELNG
LALPQHEPNDEDGESDVDWQGERKQFAVVLLSLRLLAKFLGFVAFLPYRGPEPPPTGELQ
DSILALRSQVPPVLDVRTLLQRGLQARRAVLTVPWLVEFLSFADHVVPLLEYYRDIFTLL
LRLHRSLVLSQESEGKMCFLNKLLLLAVLGWLFQIPTVPEDLFFLEEGPSYAFEVDTVAP
EHGLDNAPVVDQQLLYTCCPYIGELRKLLASWVSGSSGRSGGFMRKITPTTTTSLGAQPS
QTSQGLQAQLAQAFFHNQPPSLRRTVEFVAERIGSNCVKHIKATLVADLVRQAESLLQEQ
LVTQGEEGGDPAQLLEILCSQLCPHGAQALALGREFCQRKSPGAVRALLPEETPAAVLSS
AENIAVGLATEKACAWLSANITALIRREVKAAVSRTLRAQGPEPAARGERRGCSRACEHH
APLPSHLISEIKDVLSLAVGPRDPDEGVSPEHLEQLLGQLGQTLRCRQFLCPPAEQHLAK
CSVELASLLVADQIPILGPPAQYRLERGQARRLLHMLLSLWKEDFQGPVPLQLLLSPRNV
GLLADTRPREWDLLLFLLRELVEKGLMGRMEIEACLGSLHQAQWPGDFAEELATLSNLFL
AEPHLPEPQLRACELVQPNRGTVLAQS

Sequence length

1227

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anemia, congenital dyserythropoietic, type 1a	Pathogenic; Likely pathogenic	rs375339408, rs778822407, rs2140471687, rs2140505826, rs2506101144, rs80338697, rs80338699, rs120074166, rs120074167, rs2506131342, rs2506067560, rs778173860, rs2506137543, rs2506092231, rs1383200463, rs80338694, rs80338696, rs1336651679 View all (3 more)	RCV005009585 RCV003764481 RCV001780464 RCV001780465 RCV002280806 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CDAN1-related disorder	Likely pathogenic; Pathogenic	rs80338694	RCV004755746	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital dyserythropoietic anemia, type I	Likely pathogenic; Pathogenic	rs80338697, rs80338699, rs120074166, rs120074167, rs120074168, rs120074169, rs80338694, rs80338696, rs140334403	RCV000020956 RCV000020959 RCV000003328 RCV000020953 RCV000003330 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs145148854	RCV005927014	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

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	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DYSERYTHROPOIETIC, CONGENITAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia	Likely benign; Uncertain significance	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 1	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (63)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
alpha-Thalassemia	alpha Thalassemia	BEFREE	12071943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	33401150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	12434312, 16098079, 16141353, 19336738, 22407294, 22504250, 23716552, 29599085, 32160409, 32239177, 32293259, 32518175, 33075436, 33121234, 33401150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	9345103	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	33401150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Macrocytic	Macrocytic anemia	Pubtator	29599085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	BEFREE	23605369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	BEFREE	19336738, 27206021, 29599085, 9255198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Neonatal	Anemia	BEFREE	9255198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	BEFREE	18081704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	LHGDN	18081704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31039159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	29995287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	27707730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	12825070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	12434312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	16098079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	9255198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	12434312, 18575862, 21378561, 23065504, 23940284, 24196372, 27759939, 7507739, 9345103		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	LHGDN	12434312, 18575862		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital dyserythropoietic anemia type I	Congenital dyserythropoietic anemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	GENOMICS_ENGLAND_DG	12434312, 29599085		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	UNIPROT_DG	12434312		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	CLINVAR_DG	12434312, 16141353, 16754775, 18575862, 22407294, 29901818		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	BEFREE	12825070, 19336738, 21364188, 22407294, 23605369, 27206021, 28755517, 29599085		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type I	Congenital dyserythropoietic anemia	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital dyserythropoietic anemia, type II	Congenital dyserythropoietic anemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia, type III	Anemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital musculoskeletal anomalies	Congenital Musculoskeletal Anomalies	BEFREE	12354273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	BEFREE	24420417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	BEFREE	24420417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	33401150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12360101, 1426699, 16181376, 27707789, 27797917, 27930408, 28419282, 28497755, 28947363, 29550798, 29572889, 29697818, 29726939, 29788260, 29867171 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30425061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythroid hyperplasia	Erythroid hyperplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	16141353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	12071943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	29599085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ileitis	Ileitis	BEFREE	30056030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31039159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	16141353, 16767397, 29599085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	29599085, 33401150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31039159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	28264648, 28601388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocytic dyserythropoietic anemia	Macrocytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28486047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	28264648, 28601388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	12825070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	12354273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28947312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	31609524		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	30534652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30425061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27707730, 28251392, 28293776, 29882440, 31240388, 31280937, 31820713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	31039159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	28973403, 29995287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	18575862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29290660, 29550798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral Multicystic Dysplastic Kidney	Unilateral Multicystic Dysplastic Kidney	BEFREE	24481986		★★★★★ ★☆☆☆☆ Found in Text Mining only

CDAN1 (codanin 1)