CCDC141 (coiled-coil domain containing 141)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 285025
• Gene name: Coiled-coil domain containing 141
• Gene symbol: CCDC141
• Synonyms (NCBI Gene): CAMDI
• Chromosome: 2
• Chromosome location: 2q31.2

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 616031
• HGNC: 26821
• e!Ensembl: ENSG00000163492

Protein

• UniProt ID: 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
• 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

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)

Unknown / Other Associations Show/Hide Unknown Diseases (24)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATRIOVENTRICULAR BLOCK	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BUNDLE BRANCH BLOCK	—	GWAS catalog	39024449	★★☆☆☆ 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	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL MUCINOUS ADENOCARCINOMA	—	GWAS catalog	29942513	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	31533690	★★☆☆☆ 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	33580673, 36282123	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	36376295	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	33495597, 39966646	★★☆☆☆ 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	28324054, 28324054	★★☆☆☆ 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	35350973	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	GWAS catalog	33580673, 36282123	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (35)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SRA1 9 shared diseasesHypogonadotropic hypogonadism, Hypopituitarism, Growth hormone deficiency, Kallmann syndrome, Panhypopituitarism, Pituitary dwarfism, Pituitary short stature, Willis-ekbom disease, Sheehan syndrome 12 shared evidence sourcesDisgenet (Hypogonadotropic hypogonadism), CTD (Hypogonadotropic hypogonadism), ClinVar (Hypogonadotropic hypogonadism), HPO (Hypogonadotropic hypogonadism), Disgenet (Hypopituitarism), Disgenet (Growth hormone deficiency), Disgenet (Kallmann syndrome), Disgenet (Panhypopituitarism), Disgenet (Pituitary dwarfism), Disgenet (Pituitary short stature), GWAS catalog (Willis-ekbom disease), Disgenet (Sheehan syndrome) Related via 9 shared diseases including Hypogonadotropic hypogonadism, Hypopituitarism — evidence mostly Disgenet. HS6ST1 8 shared diseasesHypogonadotropic hypogonadism, Hypopituitarism, Growth hormone deficiency, Kallmann syndrome, Panhypopituitarism, Pituitary dwarfism, Pituitary short stature, Sheehan syndrome 12 shared evidence sourcesDisgenet (Hypogonadotropic hypogonadism), GenCC (Hypogonadotropic hypogonadism), CTD (Hypogonadotropic hypogonadism), ClinVar (Hypogonadotropic hypogonadism), Disgenet (Hypopituitarism), Disgenet (Growth hormone deficiency), Disgenet (Kallmann syndrome), Orphanet (Kallmann syndrome), Disgenet (Panhypopituitarism), Disgenet (Pituitary dwarfism), Disgenet (Pituitary short stature), Disgenet (Sheehan syndrome) Related via 8 shared diseases including Hypogonadotropic hypogonadism, Hypopituitarism — evidence mostly Disgenet. FEZF1 8 shared diseasesHypogonadotropic hypogonadism, Hypopituitarism, Growth hormone deficiency, Kallmann syndrome, Panhypopituitarism, Pituitary dwarfism, Pituitary short stature, Sheehan syndrome 12 shared evidence sourcesDisgenet (Hypogonadotropic hypogonadism), CTD (Hypogonadotropic hypogonadism), ClinVar (Hypogonadotropic hypogonadism), HPO (Hypogonadotropic hypogonadism), Disgenet (Hypopituitarism), Disgenet (Growth hormone deficiency), Disgenet (Kallmann syndrome), Orphanet (Kallmann syndrome), Disgenet (Panhypopituitarism), Disgenet (Pituitary dwarfism), Disgenet (Pituitary short stature), Disgenet (Sheehan syndrome) Related via 8 shared diseases including Hypogonadotropic hypogonadism, Hypopituitarism — evidence mostly Disgenet. FGF17 8 shared diseasesHypogonadotropic hypogonadism, Hypopituitarism, Growth hormone deficiency, Kallmann syndrome, Panhypopituitarism, Pituitary dwarfism, Pituitary short stature, Sheehan syndrome 12 shared evidence sourcesDisgenet (Hypogonadotropic hypogonadism), CTD (Hypogonadotropic hypogonadism), ClinVar (Hypogonadotropic hypogonadism), HPO (Hypogonadotropic hypogonadism), Disgenet (Hypopituitarism), Disgenet (Growth hormone deficiency), Disgenet (Kallmann syndrome), Orphanet (Kallmann syndrome), Disgenet (Panhypopituitarism), Disgenet (Pituitary dwarfism), Disgenet (Pituitary short stature), Disgenet (Sheehan syndrome) Related via 8 shared diseases including Hypogonadotropic hypogonadism, Hypopituitarism — evidence mostly Disgenet. NDNF 8 shared diseasesHypogonadotropic hypogonadism, Hypopituitarism, Growth hormone deficiency, Kallmann syndrome, Panhypopituitarism, Pituitary dwarfism, Pituitary short stature, Sheehan syndrome 12 shared evidence sourcesDisgenet (Hypogonadotropic hypogonadism), ClinVar (Hypogonadotropic hypogonadism), HPO (Hypogonadotropic hypogonadism), Disgenet (Hypopituitarism), Disgenet (Growth hormone deficiency), CTD (Kallmann syndrome), Disgenet (Kallmann syndrome), Orphanet (Kallmann syndrome), Disgenet (Panhypopituitarism), Disgenet (Pituitary dwarfism), Disgenet (Pituitary short stature), Disgenet (Sheehan syndrome) Related via 8 shared diseases including Hypogonadotropic hypogonadism, Hypopituitarism — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SRA1	9	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Willis-ekbom disease","Sheehan syndrome"]	0	[]	12	["Disgenet (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","GWAS catalog (Willis-ekbom disease)","Disgenet (Sheehan syndrome)"]
HS6ST1	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	0	[]	12	["Disgenet (Hypogonadotropic hypogonadism)","GenCC (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Orphanet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
FEZF1	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	0	[]	12	["Disgenet (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Orphanet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
FGF17	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	0	[]	12	["Disgenet (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Orphanet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
NDNF	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	0	[]	12	["Disgenet (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","CTD (Kallmann syndrome)","Disgenet (Kallmann syndrome)","Orphanet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]

Diseases Linked via Similar Genes

Attention deficit hyperactivity disorder Linked via 1 of 5 related genesFEZF1 Breast cancer Linked via 1 of 5 related genesFEZF1 Oligodendroglioma Linked via 1 of 5 related genesFEZF1 Osteoarthritis Linked via 1 of 5 related genesFEZF1 Schizophrenia Linked via 1 of 5 related genesFEZF1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Attention deficit hyperactivity disorder	1	["FEZF1"]
Breast cancer	1	["FEZF1"]
Oligodendroglioma	1	["FEZF1"]
Osteoarthritis	1	["FEZF1"]
Schizophrenia	1	["FEZF1"]