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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	285025
Gene name	Coiled-coil domain containing 141
Gene symbol	CCDC141
Synonyms (NCBI Gene)	CAMDI
Chromosome	2
Chromosome location	2q31.2

246

Show/Hide all (246)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018715	hsa-miR-335-5p	Microarray	18185580
MIRT643953	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT643952	hsa-miR-622	HITS-CLIP	23824327
MIRT643951	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT643950	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT643949	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT643948	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT643947	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT643946	hsa-miR-7703	HITS-CLIP	23824327
MIRT643953	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT643952	hsa-miR-622	HITS-CLIP	23824327
MIRT643951	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT643950	hsa-miR-3925-3p	HITS-CLIP	23824327
MIRT643949	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT643948	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT643947	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT643946	hsa-miR-7703	HITS-CLIP	23824327
MIRT868112	hsa-miR-1225-3p	CLIP-seq
MIRT868113	hsa-miR-1233	CLIP-seq
MIRT868114	hsa-miR-1245b-3p	CLIP-seq
MIRT868115	hsa-miR-1252	CLIP-seq
MIRT868116	hsa-miR-1273e	CLIP-seq
MIRT868117	hsa-miR-1276	CLIP-seq
MIRT868118	hsa-miR-1290	CLIP-seq
MIRT868119	hsa-miR-194	CLIP-seq
MIRT868120	hsa-miR-21	CLIP-seq
MIRT868121	hsa-miR-2116	CLIP-seq
MIRT868122	hsa-miR-27a	CLIP-seq
MIRT868123	hsa-miR-27b	CLIP-seq
MIRT868124	hsa-miR-2964a-3p	CLIP-seq
MIRT868125	hsa-miR-2964a-5p	CLIP-seq
MIRT868126	hsa-miR-302f	CLIP-seq
MIRT868127	hsa-miR-3122	CLIP-seq
MIRT868128	hsa-miR-3167	CLIP-seq
MIRT868129	hsa-miR-3591-3p	CLIP-seq
MIRT868130	hsa-miR-3664-3p	CLIP-seq
MIRT868131	hsa-miR-3671	CLIP-seq
MIRT868132	hsa-miR-3679-3p	CLIP-seq
MIRT868133	hsa-miR-3689a-3p	CLIP-seq
MIRT868134	hsa-miR-3689c	CLIP-seq
MIRT868135	hsa-miR-3689d	CLIP-seq
MIRT868136	hsa-miR-380	CLIP-seq
MIRT868137	hsa-miR-3913-5p	CLIP-seq
MIRT868138	hsa-miR-3929	CLIP-seq
MIRT868139	hsa-miR-3942-3p	CLIP-seq
MIRT868140	hsa-miR-432	CLIP-seq
MIRT868141	hsa-miR-4323	CLIP-seq
MIRT868142	hsa-miR-4419b	CLIP-seq
MIRT868143	hsa-miR-4433	CLIP-seq
MIRT868144	hsa-miR-4459	CLIP-seq
MIRT868145	hsa-miR-4478	CLIP-seq
MIRT868146	hsa-miR-4496	CLIP-seq
MIRT868147	hsa-miR-4643	CLIP-seq
MIRT868148	hsa-miR-4649-3p	CLIP-seq
MIRT868149	hsa-miR-4677-5p	CLIP-seq
MIRT868150	hsa-miR-4690-3p	CLIP-seq
MIRT868151	hsa-miR-4695-5p	CLIP-seq
MIRT868152	hsa-miR-4722-5p	CLIP-seq
MIRT868153	hsa-miR-4728-5p	CLIP-seq
MIRT868154	hsa-miR-4738-3p	CLIP-seq
MIRT868155	hsa-miR-4753-3p	CLIP-seq
MIRT868156	hsa-miR-4768-3p	CLIP-seq
MIRT868157	hsa-miR-4768-5p	CLIP-seq
MIRT868158	hsa-miR-4775	CLIP-seq
MIRT868159	hsa-miR-485-5p	CLIP-seq
MIRT868160	hsa-miR-498	CLIP-seq
MIRT868161	hsa-miR-500a	CLIP-seq
MIRT868162	hsa-miR-510	CLIP-seq
MIRT868163	hsa-miR-511	CLIP-seq
MIRT868164	hsa-miR-512-5p	CLIP-seq
MIRT868165	hsa-miR-513a-5p	CLIP-seq
MIRT868166	hsa-miR-548c-3p	CLIP-seq
MIRT868167	hsa-miR-590-3p	CLIP-seq
MIRT868168	hsa-miR-590-5p	CLIP-seq
MIRT868169	hsa-miR-607	CLIP-seq
MIRT868170	hsa-miR-671-5p	CLIP-seq
MIRT868171	hsa-miR-876-5p	CLIP-seq
MIRT1957614	hsa-miR-1182	CLIP-seq
MIRT1957615	hsa-miR-1238	CLIP-seq
MIRT868116	hsa-miR-1273e	CLIP-seq
MIRT868117	hsa-miR-1276	CLIP-seq
MIRT868119	hsa-miR-194	CLIP-seq
MIRT868124	hsa-miR-2964a-3p	CLIP-seq
MIRT868126	hsa-miR-302f	CLIP-seq
MIRT868127	hsa-miR-3122	CLIP-seq
MIRT1957616	hsa-miR-3154	CLIP-seq
MIRT868133	hsa-miR-3689a-3p	CLIP-seq
MIRT868134	hsa-miR-3689c	CLIP-seq
MIRT868135	hsa-miR-3689d	CLIP-seq
MIRT868137	hsa-miR-3913-5p	CLIP-seq
MIRT868138	hsa-miR-3929	CLIP-seq
MIRT868142	hsa-miR-4419b	CLIP-seq
MIRT868145	hsa-miR-4478	CLIP-seq
MIRT868147	hsa-miR-4643	CLIP-seq
MIRT868148	hsa-miR-4649-3p	CLIP-seq
MIRT868152	hsa-miR-4722-5p	CLIP-seq
MIRT868153	hsa-miR-4728-5p	CLIP-seq
MIRT868156	hsa-miR-4768-3p	CLIP-seq
MIRT868158	hsa-miR-4775	CLIP-seq
MIRT868159	hsa-miR-485-5p	CLIP-seq
MIRT868161	hsa-miR-500a	CLIP-seq
MIRT1957617	hsa-miR-944	CLIP-seq
MIRT2194709	hsa-miR-1272	CLIP-seq
MIRT868116	hsa-miR-1273e	CLIP-seq
MIRT2194710	hsa-miR-1324	CLIP-seq
MIRT2194711	hsa-miR-183	CLIP-seq
MIRT2194712	hsa-miR-1915	CLIP-seq
MIRT2194713	hsa-miR-2467-3p	CLIP-seq
MIRT868124	hsa-miR-2964a-3p	CLIP-seq
MIRT868126	hsa-miR-302f	CLIP-seq
MIRT868127	hsa-miR-3122	CLIP-seq
MIRT2194714	hsa-miR-3160-3p	CLIP-seq
MIRT2194715	hsa-miR-3180-5p	CLIP-seq
MIRT868130	hsa-miR-3664-3p	CLIP-seq
MIRT2194716	hsa-miR-3678-3p	CLIP-seq
MIRT2194717	hsa-miR-3688-3p	CLIP-seq
MIRT868133	hsa-miR-3689a-3p	CLIP-seq
MIRT868134	hsa-miR-3689c	CLIP-seq
MIRT868135	hsa-miR-3689d	CLIP-seq
MIRT2194718	hsa-miR-3913-3p	CLIP-seq
MIRT868137	hsa-miR-3913-5p	CLIP-seq
MIRT868138	hsa-miR-3929	CLIP-seq
MIRT2194719	hsa-miR-4271	CLIP-seq
MIRT868142	hsa-miR-4419b	CLIP-seq
MIRT2194720	hsa-miR-4426	CLIP-seq
MIRT868143	hsa-miR-4433	CLIP-seq
MIRT868144	hsa-miR-4459	CLIP-seq
MIRT868145	hsa-miR-4478	CLIP-seq
MIRT2194721	hsa-miR-4494	CLIP-seq
MIRT2194722	hsa-miR-4647	CLIP-seq
MIRT868148	hsa-miR-4649-3p	CLIP-seq
MIRT2194723	hsa-miR-4662b	CLIP-seq
MIRT2194724	hsa-miR-4680-5p	CLIP-seq
MIRT868151	hsa-miR-4695-5p	CLIP-seq
MIRT868152	hsa-miR-4722-5p	CLIP-seq
MIRT2194725	hsa-miR-4725-3p	CLIP-seq
MIRT2194726	hsa-miR-4726-3p	CLIP-seq
MIRT868153	hsa-miR-4728-5p	CLIP-seq
MIRT868156	hsa-miR-4768-3p	CLIP-seq
MIRT868159	hsa-miR-485-5p	CLIP-seq
MIRT2194727	hsa-miR-489	CLIP-seq
MIRT2194728	hsa-miR-499a-5p	CLIP-seq
MIRT868161	hsa-miR-500a	CLIP-seq
MIRT868162	hsa-miR-510	CLIP-seq
MIRT868164	hsa-miR-512-5p	CLIP-seq
MIRT2194729	hsa-miR-520a-5p	CLIP-seq
MIRT2194730	hsa-miR-525-5p	CLIP-seq
MIRT2194731	hsa-miR-95	CLIP-seq
MIRT1957614	hsa-miR-1182	CLIP-seq
MIRT868127	hsa-miR-3122	CLIP-seq
MIRT868133	hsa-miR-3689a-3p	CLIP-seq
MIRT868134	hsa-miR-3689c	CLIP-seq
MIRT868137	hsa-miR-3913-5p	CLIP-seq
MIRT868153	hsa-miR-4728-5p	CLIP-seq
MIRT868159	hsa-miR-485-5p	CLIP-seq
MIRT868161	hsa-miR-500a	CLIP-seq
MIRT2446387	hsa-miR-1264	CLIP-seq
MIRT868116	hsa-miR-1273e	CLIP-seq
MIRT2446388	hsa-miR-1297	CLIP-seq
MIRT2446389	hsa-miR-186	CLIP-seq
MIRT2446390	hsa-miR-26a	CLIP-seq
MIRT2446391	hsa-miR-26b	CLIP-seq
MIRT868124	hsa-miR-2964a-3p	CLIP-seq
MIRT868126	hsa-miR-302f	CLIP-seq
MIRT868127	hsa-miR-3122	CLIP-seq
MIRT868130	hsa-miR-3664-3p	CLIP-seq
MIRT868133	hsa-miR-3689a-3p	CLIP-seq
MIRT868134	hsa-miR-3689c	CLIP-seq
MIRT868135	hsa-miR-3689d	CLIP-seq
MIRT868137	hsa-miR-3913-5p	CLIP-seq
MIRT868138	hsa-miR-3929	CLIP-seq
MIRT868142	hsa-miR-4419b	CLIP-seq
MIRT868143	hsa-miR-4433	CLIP-seq
MIRT868144	hsa-miR-4459	CLIP-seq
MIRT2446392	hsa-miR-4465	CLIP-seq
MIRT868145	hsa-miR-4478	CLIP-seq
MIRT868148	hsa-miR-4649-3p	CLIP-seq
MIRT868151	hsa-miR-4695-5p	CLIP-seq
MIRT868152	hsa-miR-4722-5p	CLIP-seq
MIRT868153	hsa-miR-4728-5p	CLIP-seq
MIRT868156	hsa-miR-4768-3p	CLIP-seq
MIRT868159	hsa-miR-485-5p	CLIP-seq
MIRT868160	hsa-miR-498	CLIP-seq
MIRT868161	hsa-miR-500a	CLIP-seq
MIRT868162	hsa-miR-510	CLIP-seq
MIRT868164	hsa-miR-512-5p	CLIP-seq
MIRT868115	hsa-miR-1252	CLIP-seq
MIRT2465041	hsa-miR-214	CLIP-seq
MIRT868127	hsa-miR-3122	CLIP-seq
MIRT1957616	hsa-miR-3154	CLIP-seq
MIRT2465042	hsa-miR-3163	CLIP-seq
MIRT2465043	hsa-miR-3168	CLIP-seq
MIRT2465044	hsa-miR-3619-5p	CLIP-seq
MIRT868133	hsa-miR-3689a-3p	CLIP-seq
MIRT868134	hsa-miR-3689c	CLIP-seq
MIRT868137	hsa-miR-3913-5p	CLIP-seq
MIRT2465045	hsa-miR-4282	CLIP-seq
MIRT2465046	hsa-miR-4291	CLIP-seq
MIRT2465047	hsa-miR-4698	CLIP-seq
MIRT868153	hsa-miR-4728-5p	CLIP-seq
MIRT868161	hsa-miR-500a	CLIP-seq
MIRT2465048	hsa-miR-522	CLIP-seq
MIRT868166	hsa-miR-548c-3p	CLIP-seq
MIRT2465049	hsa-miR-761	CLIP-seq
MIRT2465050	hsa-miR-922	CLIP-seq
MIRT868116	hsa-miR-1273e	CLIP-seq
MIRT868124	hsa-miR-2964a-3p	CLIP-seq
MIRT868126	hsa-miR-302f	CLIP-seq
MIRT868127	hsa-miR-3122	CLIP-seq
MIRT868130	hsa-miR-3664-3p	CLIP-seq
MIRT868133	hsa-miR-3689a-3p	CLIP-seq
MIRT868134	hsa-miR-3689c	CLIP-seq
MIRT868135	hsa-miR-3689d	CLIP-seq
MIRT868137	hsa-miR-3913-5p	CLIP-seq
MIRT868138	hsa-miR-3929	CLIP-seq
MIRT868142	hsa-miR-4419b	CLIP-seq
MIRT868143	hsa-miR-4433	CLIP-seq
MIRT868144	hsa-miR-4459	CLIP-seq
MIRT868145	hsa-miR-4478	CLIP-seq
MIRT868148	hsa-miR-4649-3p	CLIP-seq
MIRT868151	hsa-miR-4695-5p	CLIP-seq
MIRT868152	hsa-miR-4722-5p	CLIP-seq
MIRT868153	hsa-miR-4728-5p	CLIP-seq
MIRT868156	hsa-miR-4768-3p	CLIP-seq
MIRT868159	hsa-miR-485-5p	CLIP-seq
MIRT868161	hsa-miR-500a	CLIP-seq
MIRT868162	hsa-miR-510	CLIP-seq
MIRT868164	hsa-miR-512-5p	CLIP-seq
MIRT868127	hsa-miR-3122	CLIP-seq
MIRT868130	hsa-miR-3664-3p	CLIP-seq
MIRT868133	hsa-miR-3689a-3p	CLIP-seq
MIRT868134	hsa-miR-3689c	CLIP-seq
MIRT868137	hsa-miR-3913-5p	CLIP-seq
MIRT868138	hsa-miR-3929	CLIP-seq
MIRT868142	hsa-miR-4419b	CLIP-seq
MIRT868143	hsa-miR-4433	CLIP-seq
MIRT868144	hsa-miR-4459	CLIP-seq
MIRT868145	hsa-miR-4478	CLIP-seq
MIRT868148	hsa-miR-4649-3p	CLIP-seq
MIRT868151	hsa-miR-4695-5p	CLIP-seq
MIRT868153	hsa-miR-4728-5p	CLIP-seq
MIRT868156	hsa-miR-4768-3p	CLIP-seq
MIRT868159	hsa-miR-485-5p	CLIP-seq
MIRT868161	hsa-miR-500a	CLIP-seq
MIRT868162	hsa-miR-510	CLIP-seq
MIRT868164	hsa-miR-512-5p	CLIP-seq

Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12812986, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007420	Process	Brain development	IEA
GO:0021799	Process	Cerebral cortex radially oriented cell migration	IEA
GO:0051642	Process	Centrosome localization	IEA

MIM	HGNC	e!Ensembl
616031	26821	ENSG00000163492

Q6ZP82

Protein name

Coiled-coil domain-containing protein 141 (Coiled-coil protein associated with myosin II and DISC1)

Protein function

Plays a critical role in cortical radial and GnRH neurons migration during brain development. Regulates cortical radial migration by negatively controlling the activity of histone deacetylase 6 (HDAC6) and promotes centrosome maturation. CAMDI i

Family and domains

Sequence

MSSQGSPSVALSTTTVSSVAVQAGDSKIVIAVIKCGKWVQLQLAESQPNLLEIGSSQDET
KKLLHDHELLLAKLKALEDRVWELLQEADKTAEENKDQSQVYDAMAETLGEAWAALVSML
ERRTELLRLTSEFFENALEFAIKIDQAEDFLQNTHEFESAESLKSLLQLHEHHTKELLER
SLALLNKSQQLTDFIEKFKCEGPNVNPELTQGAHSSCLKVDRLLELLQDRRRQLDKYLKQ
QWQELSQVLQICQWDQQENQVTCWFQKTIRNLQEQSLGSSLSDNEDRIHKQEELIIKAKE
WNSAVEKLKSEALRILLSKDYVEKEHLQLSHQKLSQLQEEFGQLMVERNTWLKKANEFFN
SANKAFDVLGRVEAYLKLLKSEGLSLAVLAVRHEELHRKIKDCTTDALQKGQTLISQVDS
CSSQVSGIHEMMGCIKRRVDHLTEQCSAHKEYALKKQQLTASVEGYLRKVEMSIQKISPV
LSNAMDVGSTRSESEKILNKYLELDIQAKETSHELEAAAKTMMEKNEFVSDEMVSLSSKA
RWLAEELNLFGQSIDYRSQVLQTYVAFLKSSEEVEMQFQSLKEFYETEIPQKEQDDAKAK
HCSDSAEKQWQLFLKKSFITQDLGLEFLNLINMAKENEILDVKNEVYLMKNTMENQKAER
EELSLLRLAWQLKATESKPGKQQWAAFKEQLKKTSHNLKLLQEALMPVSALDLGGSLQFI
LDLRQKWNDMKPQFQQLNDEVQYIMKESEELTGRGAPVKEKSQQLKDLIHFHQKQKERIQ
DYEDILYKVVQFHQVKEELGRLIKSRELEFVEQPKELGDAHDVQIHLRCSQEKQARVDHL
HRLALSLGVDIISSVQRPHCSNVSAKNLQQQLELLEEDSMKWRAKAEEYGRTLSRSVEYC
AMRDEINELKDSFKDIKKKFNNLKFNYTKKNEKSRNLKALKYQIQQVDMYAEKMQALKRK
MEKVSNKTSDSFLNYPSDKVNVLLEVMKDLQKHVDDFDKVVTDYKKNLDLTEHFQEVIEE
CHFWYEDASATVVRVGKYSTECKTKEAVKILHQQFNKFIAPSVPQQEERIQEATDLAQHL
YGLEEGQKYIEKIVTKHKEVLESVTELCESLTELEEKLKQGDVLKMNPNLEDFHYDYIDL
LKEPAKNKQTIFNEERNKGQVQVADLLGINGTGEERLPQDLKVSTDKEGGVQDLLLPEDM
LSGEEYECVSPDDISLPPLPGSPESPLAPSDMEVEEPVSSSLSLHISSYGVQAGTSSPGD
AQESVLPPPVAFADACNDKRETFSSHFERPYLQFKAEPPLTSRGFVEKSTALHRISAEHP
ESMMSEVHERALQQHPQAQGGLLETREKMHADNNFTKTQDRLHASSDAFSGLRFQSGTSR
GYQRQMVPREEIKSTSAKSSVVSLADQAPNFSRLLSNVTVMEGSPVTLEVEVTGFPEPTL
TWWVAYNDKP

Sequence length

1450

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 Unknown Diseases (24)

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.
ATRIOVENTRICULAR BLOCK	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUNDLE BRANCH BLOCK	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCDC141-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL MUCINOUS ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL SICK SINUS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Uncertain significance	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar ClinVar, HPO ClinVar, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28849195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28525603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	31730661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33270637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	27014940		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	28324054		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	28324054, 33208564	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	31730661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	27014940, 28324054		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	28324054		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	28324054	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	31730661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	28525603	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	33580673	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CCDC141 (coiled-coil domain containing 141)