CCDC141 (coiled-coil domain containing 141)

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

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)

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:0021799	Process	Cerebral cortex radially oriented cell migration	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
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

Causal
Disease term	Disease name	dbSNP ID	References
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Mirror movements	Mirror movements disorder	rs199925463, rs34091239, rs606231254, rs1555429623, rs1567750186, rs1567749982, rs1567750187
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Kallmann Syndrome	Kallmann syndrome			GenCC
Hypogonadotropic Hypogonadism	hypogonadotropic hypogonadism			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Sick Sinus Syndrome	Sick Sinus Syndrome			GWAS
Hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Bipolar Disorder	Associate	28525603
Hypogonadism	Associate	33270637
Idiopathic Hypogonadotropic Hypogonadism	Associate	28324054, 33208564
Kallmann Syndrome	Associate	28324054
Schizophrenia	Associate	28525603
Sick Sinus Syndrome	Associate	33580673