CCBE1 (collagen and calcium binding EGF domains 1)

Gene

• Entrez ID: 147372
• Gene name: Collagen and calcium binding EGF domains 1
• Gene symbol: CCBE1
• Synonyms (NCBI Gene): HKLLS1
• Chromosome: 18
• Chromosome location: 18q21.32
• Summary: This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61745250	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs121908250	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121908251	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121908252	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121908253	G>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121908254	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs563023244	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT721095	hsa-miR-584-3p	HITS-CLIP	19536157
MIRT721094	hsa-miR-4277	HITS-CLIP	19536157
MIRT721093	hsa-miR-3183	HITS-CLIP	19536157
MIRT721092	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT721091	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT721090	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT721089	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT721088	hsa-miR-4326	HITS-CLIP	19536157
MIRT721087	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT721086	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT721084	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT721085	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT716377	hsa-miR-3121-3p	HITS-CLIP	19536157
MIRT716376	hsa-miR-5009-3p	HITS-CLIP	19536157
MIRT716375	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT716374	hsa-miR-6883-3p	HITS-CLIP	19536157
MIRT716373	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT712954	hsa-miR-548ac	HITS-CLIP	19536157
MIRT712953	hsa-miR-548bb-3p	HITS-CLIP	19536157
MIRT712952	hsa-miR-548d-3p	HITS-CLIP	19536157
MIRT712951	hsa-miR-548h-3p	HITS-CLIP	19536157
MIRT712950	hsa-miR-548z	HITS-CLIP	19536157
MIRT712949	hsa-miR-548ae-3p	HITS-CLIP	19536157
MIRT712948	hsa-miR-548ah-3p	HITS-CLIP	19536157
MIRT712947	hsa-miR-548aj-3p	HITS-CLIP	19536157
MIRT712946	hsa-miR-548am-3p	HITS-CLIP	19536157
MIRT712945	hsa-miR-548aq-3p	HITS-CLIP	19536157
MIRT712943	hsa-miR-548j-3p	HITS-CLIP	19536157
MIRT712944	hsa-miR-548x-3p	HITS-CLIP	19536157
MIRT712942	hsa-miR-6760-3p	HITS-CLIP	19536157
MIRT712941	hsa-miR-1208	HITS-CLIP	19536157
MIRT631164	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT631163	hsa-miR-646	HITS-CLIP	23824327
MIRT631162	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT674152	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT674151	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT674150	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT674149	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT631161	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT631160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT631159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT631158	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT631157	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT631156	hsa-miR-1976	HITS-CLIP	23824327
MIRT631155	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631154	hsa-miR-4279	HITS-CLIP	23824327
MIRT659775	hsa-miR-3909	HITS-CLIP	23824327
MIRT659773	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT669199	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT659772	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT659771	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT659770	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT659769	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT659774	hsa-miR-4286	HITS-CLIP	23824327
MIRT659775	hsa-miR-3909	HITS-CLIP	23824327
MIRT659773	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT659772	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT659771	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT659770	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT659769	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT631164	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT631163	hsa-miR-646	HITS-CLIP	23824327
MIRT631162	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT631161	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT631160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT631159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT631158	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT631157	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT631156	hsa-miR-1976	HITS-CLIP	23824327
MIRT631155	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631154	hsa-miR-4279	HITS-CLIP	23824327
MIRT514977	hsa-miR-3940-3p	PAR-CLIP	23446348
MIRT514976	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT442949	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT442948	hsa-miR-3612	PAR-CLIP	22100165
MIRT442947	hsa-miR-650	PAR-CLIP	22100165
MIRT442946	hsa-miR-6880-5p	PAR-CLIP	22100165
MIRT442945	hsa-miR-7847-3p	PAR-CLIP	22100165
MIRT442944	hsa-miR-4443	PAR-CLIP	22100165
MIRT731279	hsa-miR-330-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	28419078
MIRT731279	hsa-miR-330-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	28419078
MIRT721095	hsa-miR-584-3p	HITS-CLIP	19536157
MIRT721094	hsa-miR-4277	HITS-CLIP	19536157
MIRT721093	hsa-miR-3183	HITS-CLIP	19536157
MIRT721092	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT721091	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT721090	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT721089	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT721088	hsa-miR-4326	HITS-CLIP	19536157
MIRT721087	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT721086	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT721084	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT721085	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT716377	hsa-miR-3121-3p	HITS-CLIP	19536157
MIRT716376	hsa-miR-5009-3p	HITS-CLIP	19536157
MIRT716375	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT716374	hsa-miR-6883-3p	HITS-CLIP	19536157
MIRT716373	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT712954	hsa-miR-548ac	HITS-CLIP	19536157
MIRT712953	hsa-miR-548bb-3p	HITS-CLIP	19536157
MIRT712952	hsa-miR-548d-3p	HITS-CLIP	19536157
MIRT712951	hsa-miR-548h-3p	HITS-CLIP	19536157
MIRT712950	hsa-miR-548z	HITS-CLIP	19536157
MIRT712949	hsa-miR-548ae-3p	HITS-CLIP	19536157
MIRT712948	hsa-miR-548ah-3p	HITS-CLIP	19536157
MIRT712947	hsa-miR-548aj-3p	HITS-CLIP	19536157
MIRT712946	hsa-miR-548am-3p	HITS-CLIP	19536157
MIRT712945	hsa-miR-548aq-3p	HITS-CLIP	19536157
MIRT712943	hsa-miR-548j-3p	HITS-CLIP	19536157
MIRT712944	hsa-miR-548x-3p	HITS-CLIP	19536157
MIRT712942	hsa-miR-6760-3p	HITS-CLIP	19536157
MIRT712941	hsa-miR-1208	HITS-CLIP	19536157
MIRT631164	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT631163	hsa-miR-646	HITS-CLIP	23824327
MIRT631162	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT674152	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT674151	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT674150	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT674149	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT631161	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT631160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT631159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT631158	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT631157	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT631156	hsa-miR-1976	HITS-CLIP	23824327
MIRT631155	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631154	hsa-miR-4279	HITS-CLIP	23824327
MIRT659775	hsa-miR-3909	HITS-CLIP	23824327
MIRT659773	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT669199	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT659772	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT659771	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT659770	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT659769	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT659774	hsa-miR-4286	HITS-CLIP	23824327
MIRT659775	hsa-miR-3909	HITS-CLIP	23824327
MIRT659773	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT659772	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT659771	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT659770	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT659769	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT631164	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT631163	hsa-miR-646	HITS-CLIP	23824327
MIRT631162	hsa-miR-1207-3p	HITS-CLIP	23824327
MIRT631161	hsa-miR-4740-3p	HITS-CLIP	23824327
MIRT631160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT631159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT631158	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT631157	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT631156	hsa-miR-1976	HITS-CLIP	23824327
MIRT631155	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631154	hsa-miR-4279	HITS-CLIP	23824327
MIRT514977	hsa-miR-3940-3p	PAR-CLIP	23446348
MIRT514976	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT442949	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT442948	hsa-miR-3612	PAR-CLIP	22100165
MIRT442947	hsa-miR-650	PAR-CLIP	22100165
MIRT442946	hsa-miR-6880-5p	PAR-CLIP	22100165
MIRT442945	hsa-miR-7847-3p	PAR-CLIP	22100165
MIRT442944	hsa-miR-4443	PAR-CLIP	22100165
MIRT867122	hsa-miR-1184	CLIP-seq
MIRT867123	hsa-miR-1200	CLIP-seq
MIRT867124	hsa-miR-1205	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT867126	hsa-miR-1231	CLIP-seq
MIRT867127	hsa-miR-1237	CLIP-seq
MIRT867128	hsa-miR-1248	CLIP-seq
MIRT867129	hsa-miR-1252	CLIP-seq
MIRT867130	hsa-miR-1270	CLIP-seq
MIRT867131	hsa-miR-129-5p	CLIP-seq
MIRT867132	hsa-miR-132	CLIP-seq
MIRT867133	hsa-miR-140-3p	CLIP-seq
MIRT867134	hsa-miR-150	CLIP-seq
MIRT867135	hsa-miR-1587	CLIP-seq
MIRT867136	hsa-miR-197	CLIP-seq
MIRT867137	hsa-miR-2113	CLIP-seq
MIRT867138	hsa-miR-212	CLIP-seq
MIRT867139	hsa-miR-24	CLIP-seq
MIRT867140	hsa-miR-3135	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867142	hsa-miR-3137	CLIP-seq
MIRT867143	hsa-miR-3145-3p	CLIP-seq
MIRT867144	hsa-miR-3147	CLIP-seq
MIRT867145	hsa-miR-3149	CLIP-seq
MIRT867146	hsa-miR-3155	CLIP-seq
MIRT867147	hsa-miR-3155b	CLIP-seq
MIRT867148	hsa-miR-3158-5p	CLIP-seq
MIRT867149	hsa-miR-3173-3p	CLIP-seq
MIRT867150	hsa-miR-346	CLIP-seq
MIRT867151	hsa-miR-3545-3p	CLIP-seq
MIRT867152	hsa-miR-3545-5p	CLIP-seq
MIRT867153	hsa-miR-3649	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT867155	hsa-miR-3663-5p	CLIP-seq
MIRT867156	hsa-miR-3672	CLIP-seq
MIRT867157	hsa-miR-3684	CLIP-seq
MIRT867158	hsa-miR-410	CLIP-seq
MIRT867159	hsa-miR-411	CLIP-seq
MIRT867160	hsa-miR-4268	CLIP-seq
MIRT867161	hsa-miR-4284	CLIP-seq
MIRT867162	hsa-miR-4288	CLIP-seq
MIRT740081	hsa-miR-4318	CLIP-seq
MIRT867163	hsa-miR-4324	CLIP-seq
MIRT867164	hsa-miR-4329	CLIP-seq
MIRT740082	hsa-miR-4420	CLIP-seq
MIRT867165	hsa-miR-4425	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT867167	hsa-miR-4438	CLIP-seq
MIRT867168	hsa-miR-4448	CLIP-seq
MIRT867169	hsa-miR-4454	CLIP-seq
MIRT867170	hsa-miR-4469	CLIP-seq
MIRT867171	hsa-miR-4476	CLIP-seq
MIRT867172	hsa-miR-450b-3p	CLIP-seq
MIRT867173	hsa-miR-4532	CLIP-seq
MIRT867174	hsa-miR-4533	CLIP-seq
MIRT867175	hsa-miR-4539	CLIP-seq
MIRT867176	hsa-miR-4650-5p	CLIP-seq
MIRT867177	hsa-miR-4659a-3p	CLIP-seq
MIRT867178	hsa-miR-4659b-3p	CLIP-seq
MIRT867179	hsa-miR-4674	CLIP-seq
MIRT867180	hsa-miR-4676-5p	CLIP-seq
MIRT867181	hsa-miR-4683	CLIP-seq
MIRT867182	hsa-miR-4699-3p	CLIP-seq
MIRT867183	hsa-miR-4707-3p	CLIP-seq
MIRT867184	hsa-miR-4716-5p	CLIP-seq
MIRT867185	hsa-miR-4735-5p	CLIP-seq
MIRT867186	hsa-miR-4753-3p	CLIP-seq
MIRT867187	hsa-miR-4755-3p	CLIP-seq
MIRT867188	hsa-miR-4760-5p	CLIP-seq
MIRT867189	hsa-miR-4762-3p	CLIP-seq
MIRT867190	hsa-miR-4772-3p	CLIP-seq
MIRT867191	hsa-miR-4775	CLIP-seq
MIRT867192	hsa-miR-4781-3p	CLIP-seq
MIRT867193	hsa-miR-4787-3p	CLIP-seq
MIRT867194	hsa-miR-4793-5p	CLIP-seq
MIRT867195	hsa-miR-4795-3p	CLIP-seq
MIRT867196	hsa-miR-4797-5p	CLIP-seq
MIRT867197	hsa-miR-484	CLIP-seq
MIRT867198	hsa-miR-498	CLIP-seq
MIRT867199	hsa-miR-5095	CLIP-seq
MIRT867200	hsa-miR-5096	CLIP-seq
MIRT867201	hsa-miR-520g	CLIP-seq
MIRT867202	hsa-miR-520h	CLIP-seq
MIRT867203	hsa-miR-544b	CLIP-seq
MIRT867204	hsa-miR-548a-5p	CLIP-seq
MIRT867205	hsa-miR-548ab	CLIP-seq
MIRT867206	hsa-miR-548ak	CLIP-seq
MIRT867207	hsa-miR-548b-5p	CLIP-seq
MIRT867208	hsa-miR-548c-5p	CLIP-seq
MIRT867209	hsa-miR-548d-5p	CLIP-seq
MIRT867210	hsa-miR-548h	CLIP-seq
MIRT867211	hsa-miR-548i	CLIP-seq
MIRT867212	hsa-miR-548j	CLIP-seq
MIRT867213	hsa-miR-548k	CLIP-seq
MIRT867214	hsa-miR-548l	CLIP-seq
MIRT867215	hsa-miR-548w	CLIP-seq
MIRT867216	hsa-miR-548y	CLIP-seq
MIRT867217	hsa-miR-552	CLIP-seq
MIRT867218	hsa-miR-559	CLIP-seq
MIRT867219	hsa-miR-564	CLIP-seq
MIRT867220	hsa-miR-570	CLIP-seq
MIRT867221	hsa-miR-575	CLIP-seq
MIRT867222	hsa-miR-590-3p	CLIP-seq
MIRT867223	hsa-miR-599	CLIP-seq
MIRT867224	hsa-miR-620	CLIP-seq
MIRT867225	hsa-miR-632	CLIP-seq
MIRT867226	hsa-miR-654-3p	CLIP-seq
MIRT867227	hsa-miR-720	CLIP-seq
MIRT867228	hsa-miR-767-5p	CLIP-seq
MIRT867229	hsa-miR-769-3p	CLIP-seq
MIRT867230	hsa-miR-942	CLIP-seq
MIRT867231	hsa-miR-943	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT867227	hsa-miR-720	CLIP-seq
MIRT1957364	hsa-miR-106a	CLIP-seq
MIRT1957365	hsa-miR-106b	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT1957366	hsa-miR-1227	CLIP-seq
MIRT1957367	hsa-miR-1234	CLIP-seq
MIRT1957368	hsa-miR-1281	CLIP-seq
MIRT867131	hsa-miR-129-5p	CLIP-seq
MIRT867133	hsa-miR-140-3p	CLIP-seq
MIRT867134	hsa-miR-150	CLIP-seq
MIRT1957369	hsa-miR-17	CLIP-seq
MIRT1957370	hsa-miR-1915	CLIP-seq
MIRT867136	hsa-miR-197	CLIP-seq
MIRT1957371	hsa-miR-2052	CLIP-seq
MIRT1957372	hsa-miR-20a	CLIP-seq
MIRT1957373	hsa-miR-20b	CLIP-seq
MIRT867139	hsa-miR-24	CLIP-seq
MIRT1957374	hsa-miR-302a	CLIP-seq
MIRT1957375	hsa-miR-302b	CLIP-seq
MIRT1957376	hsa-miR-302c	CLIP-seq
MIRT1957377	hsa-miR-302d	CLIP-seq
MIRT1957378	hsa-miR-302e	CLIP-seq
MIRT1957379	hsa-miR-3122	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867142	hsa-miR-3137	CLIP-seq
MIRT867145	hsa-miR-3149	CLIP-seq
MIRT1957380	hsa-miR-3153	CLIP-seq
MIRT1957381	hsa-miR-3163	CLIP-seq
MIRT1957382	hsa-miR-3647-3p	CLIP-seq
MIRT867153	hsa-miR-3649	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT867156	hsa-miR-3672	CLIP-seq
MIRT1957383	hsa-miR-3688-5p	CLIP-seq
MIRT1957384	hsa-miR-372	CLIP-seq
MIRT1957385	hsa-miR-373	CLIP-seq
MIRT1957386	hsa-miR-3913-5p	CLIP-seq
MIRT1957387	hsa-miR-3925-3p	CLIP-seq
MIRT867159	hsa-miR-411	CLIP-seq
MIRT1957388	hsa-miR-4261	CLIP-seq
MIRT867161	hsa-miR-4284	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT867167	hsa-miR-4438	CLIP-seq
MIRT1957389	hsa-miR-4452	CLIP-seq
MIRT867169	hsa-miR-4454	CLIP-seq
MIRT1957390	hsa-miR-4668-5p	CLIP-seq
MIRT867180	hsa-miR-4676-5p	CLIP-seq
MIRT1957391	hsa-miR-4694-3p	CLIP-seq
MIRT867183	hsa-miR-4707-3p	CLIP-seq
MIRT867184	hsa-miR-4716-5p	CLIP-seq
MIRT1957392	hsa-miR-4731-5p	CLIP-seq
MIRT867185	hsa-miR-4735-5p	CLIP-seq
MIRT867187	hsa-miR-4755-3p	CLIP-seq
MIRT867190	hsa-miR-4772-3p	CLIP-seq
MIRT867191	hsa-miR-4775	CLIP-seq
MIRT867192	hsa-miR-4781-3p	CLIP-seq
MIRT867196	hsa-miR-4797-5p	CLIP-seq
MIRT867199	hsa-miR-5095	CLIP-seq
MIRT867200	hsa-miR-5096	CLIP-seq
MIRT1957393	hsa-miR-512-3p	CLIP-seq
MIRT1957394	hsa-miR-519d	CLIP-seq
MIRT1957395	hsa-miR-520a-3p	CLIP-seq
MIRT1957396	hsa-miR-520b	CLIP-seq
MIRT1957397	hsa-miR-520c-3p	CLIP-seq
MIRT1957398	hsa-miR-520d-3p	CLIP-seq
MIRT1957399	hsa-miR-520e	CLIP-seq
MIRT867201	hsa-miR-520g	CLIP-seq
MIRT867202	hsa-miR-520h	CLIP-seq
MIRT1957400	hsa-miR-539	CLIP-seq
MIRT1957401	hsa-miR-543	CLIP-seq
MIRT867219	hsa-miR-564	CLIP-seq
MIRT867221	hsa-miR-575	CLIP-seq
MIRT867222	hsa-miR-590-3p	CLIP-seq
MIRT1957402	hsa-miR-624	CLIP-seq
MIRT867227	hsa-miR-720	CLIP-seq
MIRT1957403	hsa-miR-877	CLIP-seq
MIRT1957404	hsa-miR-93	CLIP-seq
MIRT867230	hsa-miR-942	CLIP-seq
MIRT867123	hsa-miR-1200	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT1957366	hsa-miR-1227	CLIP-seq
MIRT2194336	hsa-miR-1267	CLIP-seq
MIRT1957368	hsa-miR-1281	CLIP-seq
MIRT867131	hsa-miR-129-5p	CLIP-seq
MIRT2194337	hsa-miR-1307	CLIP-seq
MIRT867133	hsa-miR-140-3p	CLIP-seq
MIRT2194338	hsa-miR-185	CLIP-seq
MIRT1957370	hsa-miR-1915	CLIP-seq
MIRT867139	hsa-miR-24	CLIP-seq
MIRT1957379	hsa-miR-3122	CLIP-seq
MIRT867140	hsa-miR-3135	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867142	hsa-miR-3137	CLIP-seq
MIRT1957380	hsa-miR-3153	CLIP-seq
MIRT867153	hsa-miR-3649	CLIP-seq
MIRT2194339	hsa-miR-3650	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT867155	hsa-miR-3663-5p	CLIP-seq
MIRT867156	hsa-miR-3672	CLIP-seq
MIRT1957386	hsa-miR-3913-5p	CLIP-seq
MIRT2194340	hsa-miR-3929	CLIP-seq
MIRT2194341	hsa-miR-3934	CLIP-seq
MIRT867159	hsa-miR-411	CLIP-seq
MIRT1957388	hsa-miR-4261	CLIP-seq
MIRT867161	hsa-miR-4284	CLIP-seq
MIRT2194342	hsa-miR-4306	CLIP-seq
MIRT867163	hsa-miR-4324	CLIP-seq
MIRT2194343	hsa-miR-4419b	CLIP-seq
MIRT2194344	hsa-miR-4423-5p	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT867167	hsa-miR-4438	CLIP-seq
MIRT1957389	hsa-miR-4452	CLIP-seq
MIRT2194345	hsa-miR-4478	CLIP-seq
MIRT867173	hsa-miR-4532	CLIP-seq
MIRT2194346	hsa-miR-4535	CLIP-seq
MIRT2194347	hsa-miR-4638-5p	CLIP-seq
MIRT2194348	hsa-miR-4644	CLIP-seq
MIRT1957390	hsa-miR-4668-5p	CLIP-seq
MIRT867180	hsa-miR-4676-5p	CLIP-seq
MIRT867185	hsa-miR-4735-5p	CLIP-seq
MIRT867187	hsa-miR-4755-3p	CLIP-seq
MIRT867190	hsa-miR-4772-3p	CLIP-seq
MIRT2194349	hsa-miR-4774-3p	CLIP-seq
MIRT867191	hsa-miR-4775	CLIP-seq
MIRT867196	hsa-miR-4797-5p	CLIP-seq
MIRT2194350	hsa-miR-492	CLIP-seq
MIRT867198	hsa-miR-498	CLIP-seq
MIRT867199	hsa-miR-5095	CLIP-seq
MIRT2194351	hsa-miR-520d-5p	CLIP-seq
MIRT867201	hsa-miR-520g	CLIP-seq
MIRT867202	hsa-miR-520h	CLIP-seq
MIRT2194352	hsa-miR-524-5p	CLIP-seq
MIRT867203	hsa-miR-544b	CLIP-seq
MIRT867217	hsa-miR-552	CLIP-seq
MIRT867219	hsa-miR-564	CLIP-seq
MIRT867221	hsa-miR-575	CLIP-seq
MIRT2194353	hsa-miR-578	CLIP-seq
MIRT2194354	hsa-miR-581	CLIP-seq
MIRT867222	hsa-miR-590-3p	CLIP-seq
MIRT867223	hsa-miR-599	CLIP-seq
MIRT1957402	hsa-miR-624	CLIP-seq
MIRT2194355	hsa-miR-645	CLIP-seq
MIRT867227	hsa-miR-720	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT2194337	hsa-miR-1307	CLIP-seq
MIRT867133	hsa-miR-140-3p	CLIP-seq
MIRT867139	hsa-miR-24	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867153	hsa-miR-3649	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT2194347	hsa-miR-4638-5p	CLIP-seq
MIRT867219	hsa-miR-564	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT2194336	hsa-miR-1267	CLIP-seq
MIRT867140	hsa-miR-3135	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867142	hsa-miR-3137	CLIP-seq
MIRT867145	hsa-miR-3149	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT2446317	hsa-miR-3664-5p	CLIP-seq
MIRT2194340	hsa-miR-3929	CLIP-seq
MIRT867159	hsa-miR-411	CLIP-seq
MIRT2446318	hsa-miR-4287	CLIP-seq
MIRT2446319	hsa-miR-4294	CLIP-seq
MIRT2194343	hsa-miR-4419b	CLIP-seq
MIRT2194344	hsa-miR-4423-5p	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT867170	hsa-miR-4469	CLIP-seq
MIRT2194345	hsa-miR-4478	CLIP-seq
MIRT2446320	hsa-miR-4639-3p	CLIP-seq
MIRT867180	hsa-miR-4676-5p	CLIP-seq
MIRT2446321	hsa-miR-4685-3p	CLIP-seq
MIRT867185	hsa-miR-4735-5p	CLIP-seq
MIRT867187	hsa-miR-4755-3p	CLIP-seq
MIRT2194349	hsa-miR-4774-3p	CLIP-seq
MIRT867191	hsa-miR-4775	CLIP-seq
MIRT867196	hsa-miR-4797-5p	CLIP-seq
MIRT867200	hsa-miR-5096	CLIP-seq
MIRT867221	hsa-miR-575	CLIP-seq
MIRT867222	hsa-miR-590-3p	CLIP-seq
MIRT2446322	hsa-miR-642a	CLIP-seq
MIRT2194355	hsa-miR-645	CLIP-seq
MIRT867227	hsa-miR-720	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867145	hsa-miR-3149	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT1957383	hsa-miR-3688-5p	CLIP-seq
MIRT867159	hsa-miR-411	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT1957389	hsa-miR-4452	CLIP-seq
MIRT867185	hsa-miR-4735-5p	CLIP-seq
MIRT867191	hsa-miR-4775	CLIP-seq
MIRT867196	hsa-miR-4797-5p	CLIP-seq
MIRT867222	hsa-miR-590-3p	CLIP-seq
MIRT867227	hsa-miR-720	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT867126	hsa-miR-1231	CLIP-seq
MIRT867129	hsa-miR-1252	CLIP-seq
MIRT867131	hsa-miR-129-5p	CLIP-seq
MIRT867133	hsa-miR-140-3p	CLIP-seq
MIRT867136	hsa-miR-197	CLIP-seq
MIRT867137	hsa-miR-2113	CLIP-seq
MIRT867139	hsa-miR-24	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867142	hsa-miR-3137	CLIP-seq
MIRT2497718	hsa-miR-3145-5p	CLIP-seq
MIRT867145	hsa-miR-3149	CLIP-seq
MIRT867146	hsa-miR-3155	CLIP-seq
MIRT867147	hsa-miR-3155b	CLIP-seq
MIRT2497719	hsa-miR-3176	CLIP-seq
MIRT867153	hsa-miR-3649	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT867156	hsa-miR-3672	CLIP-seq
MIRT2497720	hsa-miR-3922-3p	CLIP-seq
MIRT1957387	hsa-miR-3925-3p	CLIP-seq
MIRT867159	hsa-miR-411	CLIP-seq
MIRT867161	hsa-miR-4284	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT867167	hsa-miR-4438	CLIP-seq
MIRT867171	hsa-miR-4476	CLIP-seq
MIRT867173	hsa-miR-4532	CLIP-seq
MIRT867174	hsa-miR-4533	CLIP-seq
MIRT2194346	hsa-miR-4535	CLIP-seq
MIRT2497721	hsa-miR-4666-5p	CLIP-seq
MIRT867180	hsa-miR-4676-5p	CLIP-seq
MIRT2497722	hsa-miR-4712-5p	CLIP-seq
MIRT867184	hsa-miR-4716-5p	CLIP-seq
MIRT867185	hsa-miR-4735-5p	CLIP-seq
MIRT867187	hsa-miR-4755-3p	CLIP-seq
MIRT867190	hsa-miR-4772-3p	CLIP-seq
MIRT867191	hsa-miR-4775	CLIP-seq
MIRT867192	hsa-miR-4781-3p	CLIP-seq
MIRT2497723	hsa-miR-4794	CLIP-seq
MIRT867196	hsa-miR-4797-5p	CLIP-seq
MIRT2497724	hsa-miR-4802-3p	CLIP-seq
MIRT867197	hsa-miR-484	CLIP-seq
MIRT2194350	hsa-miR-492	CLIP-seq
MIRT867198	hsa-miR-498	CLIP-seq
MIRT2497725	hsa-miR-508-5p	CLIP-seq
MIRT867199	hsa-miR-5095	CLIP-seq
MIRT867200	hsa-miR-5096	CLIP-seq
MIRT2194351	hsa-miR-520d-5p	CLIP-seq
MIRT2194352	hsa-miR-524-5p	CLIP-seq
MIRT2497726	hsa-miR-548ae	CLIP-seq
MIRT2497727	hsa-miR-548aj	CLIP-seq
MIRT2497728	hsa-miR-548am	CLIP-seq
MIRT2497729	hsa-miR-548x	CLIP-seq
MIRT867220	hsa-miR-570	CLIP-seq
MIRT867221	hsa-miR-575	CLIP-seq
MIRT867222	hsa-miR-590-3p	CLIP-seq
MIRT867223	hsa-miR-599	CLIP-seq
MIRT867226	hsa-miR-654-3p	CLIP-seq
MIRT867227	hsa-miR-720	CLIP-seq
MIRT867228	hsa-miR-767-5p	CLIP-seq
MIRT2497730	hsa-miR-770-5p	CLIP-seq
MIRT867125	hsa-miR-122	CLIP-seq
MIRT867126	hsa-miR-1231	CLIP-seq
MIRT867131	hsa-miR-129-5p	CLIP-seq
MIRT867136	hsa-miR-197	CLIP-seq
MIRT867137	hsa-miR-2113	CLIP-seq
MIRT867139	hsa-miR-24	CLIP-seq
MIRT867141	hsa-miR-3135b	CLIP-seq
MIRT867142	hsa-miR-3137	CLIP-seq
MIRT867145	hsa-miR-3149	CLIP-seq
MIRT867146	hsa-miR-3155	CLIP-seq
MIRT867147	hsa-miR-3155b	CLIP-seq
MIRT2497719	hsa-miR-3176	CLIP-seq
MIRT867154	hsa-miR-3652	CLIP-seq
MIRT867155	hsa-miR-3663-5p	CLIP-seq
MIRT867156	hsa-miR-3672	CLIP-seq
MIRT2497720	hsa-miR-3922-3p	CLIP-seq
MIRT867159	hsa-miR-411	CLIP-seq
MIRT867161	hsa-miR-4284	CLIP-seq
MIRT867166	hsa-miR-4430	CLIP-seq
MIRT867167	hsa-miR-4438	CLIP-seq
MIRT867173	hsa-miR-4532	CLIP-seq
MIRT867180	hsa-miR-4676-5p	CLIP-seq
MIRT867184	hsa-miR-4716-5p	CLIP-seq
MIRT867185	hsa-miR-4735-5p	CLIP-seq
MIRT867187	hsa-miR-4755-3p	CLIP-seq
MIRT867190	hsa-miR-4772-3p	CLIP-seq
MIRT867191	hsa-miR-4775	CLIP-seq
MIRT867192	hsa-miR-4781-3p	CLIP-seq
MIRT2497723	hsa-miR-4794	CLIP-seq
MIRT867196	hsa-miR-4797-5p	CLIP-seq
MIRT867197	hsa-miR-484	CLIP-seq
MIRT867199	hsa-miR-5095	CLIP-seq
MIRT867200	hsa-miR-5096	CLIP-seq
MIRT867219	hsa-miR-564	CLIP-seq
MIRT867220	hsa-miR-570	CLIP-seq
MIRT867221	hsa-miR-575	CLIP-seq
MIRT867222	hsa-miR-590-3p	CLIP-seq
MIRT867223	hsa-miR-599	CLIP-seq
MIRT867226	hsa-miR-654-3p	CLIP-seq
MIRT867227	hsa-miR-720	CLIP-seq
MIRT867228	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001945	Process	Lymph vessel development	IEA
GO:0001946	Process	Lymphangiogenesis	IEA
GO:0001946	Process	Lymphangiogenesis	IMP	19935664
GO:0001946	Process	Lymphangiogenesis	ISS
GO:0002020	Function	Protease binding	IPI	24552833
GO:0002040	Process	Sprouting angiogenesis	ISS
GO:0003016	Process	Respiratory system process	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005518	Function	Collagen binding	IDA	21778431
GO:0005576	Component	Extracellular region	IEA
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IDA	24552833
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IDA	24552833
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010954	Process	Positive regulation of protein processing	IDA	24552833
GO:0030324	Process	Lung development	IEA
GO:0031012	Component	Extracellular matrix	IDA	21778431
GO:0043542	Process	Endothelial cell migration	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0048845	Process	Venous blood vessel morphogenesis	ISS
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	IDA	24552833
GO:1901492	Process	Positive regulation of lymphangiogenesis	IEA
GO:1904977	Process	Lymphatic endothelial cell migration	IEA

Other IDs

• MIM: 612753
• HGNC: 29426
• e!Ensembl: ENSG00000183287

Protein

• UniProt ID: Q6UXH8
• Protein name: Collagen and calcium-binding EGF domain-containing protein 1 (Full of fluid protein homolog)
• Protein function: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07645	EGF_CA	134 → 174	Calcium-binding EGF domain	Domain
  PF01391	Collagen	245 → 293	Collagen triple helix repeat (20 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Detected in fibroblasts and urine (at protein level) (PubMed:25326458, PubMed:36213313, PubMed:37453717). Not expressed in blood or lymphatic endothelial cells. {ECO:0000269|PubMed:19287381, ECO:0000269|PubMed:25326458, ECO:0000269|Pub
• Sequence:

  MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCL
  KSSGELTTCYRKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYD
  RERHRKREKPYCLDIDECASSNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKY
  PNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNNAADLGKYITGDKVLA
  SNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQG
  RRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHR
  THSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP

• Sequence length: 406

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hennekam lymphangiectasia-lymphedema syndrome 1	Pathogenic; Likely pathogenic	rs121908250, rs121908251, rs121908252, rs563023244, rs121908254, rs201954546, rs1487519669	RCV000000474 RCV000000475 RCV000000476 RCV000000477 RCV000000479 RCV003994598 RCV004555351	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE REMODELING DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCBE1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENNEKAM LYMPHANGIECTASIA LYMPHEDEMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hennekam lymphangiectasia-lymphedema syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HENNEKAM SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal tubular acidosis, distal, 4, with hemolytic anemia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	29364474		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17523142		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19935792	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28419078	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29207117		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	BEFREE	28073151		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	24086631		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	24086631	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30555263		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36781122	Stimulate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	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
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	27506146		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27506146	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hennekam lymphangiectasia lymphedema syndrome	Hennekam syndrome	Pubtator	24086631, 26686525, 28985353, 32629717, 34234628	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	CTD_human_DG	19911200, 19935664		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	ORPHANET_DG	19935664		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	BEFREE	28985353		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hennekam lymphangiectasia-lymphedema syndrome	Hennekam lymphangiectasia-lymphedema syndrome	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	Hennekam lymphangiectasia-lymphedema syndrome	GENOMICS_ENGLAND_DG	12794699, 19935664, 24913602		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	Hennekam lymphangiectasia-lymphedema syndrome	CTD_human_DG	19911200, 19935664		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	Hennekam lymphangiectasia-lymphedema syndrome	UNIPROT_DG	19911200, 19935664		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1	Hennekam lymphangiectasia-lymphedema syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hennekam syndrome	Hennekam Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG	12794699		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis	Hydrops Fetalis	CTD_human_DG	19911200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis	Hydrops fetalis	Pubtator	24086631	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CTD_human_DG	19911200		★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune Hydrops Fetalis	Immune Hydrops Fetalis	CTD_human_DG	19911200		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	19935664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	25925991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29207117		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29207117	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioma	Lymphangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28387911, 32934959	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29207117	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17523142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29207117		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	19935664		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29207117, 29364474, 30555263		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19935792	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19935792	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33370338	Associate	★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	28073151		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	19935664		★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	28387911, 29364474		★☆☆☆☆ Found in Text Mining only
Rectal Prolapse	Rectal Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	34234628	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32934959	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only