KCNH1 (potassium voltage-gated channel subfamily H member 1)

Gene

• Entrez ID: 3756
• Gene name: Potassium voltage-gated channel subfamily H member 1
• Gene symbol: KCNH1
• Synonyms (NCBI Gene): EAG, EAG1, K(V)10.1, Kv10.1, TMBTS, ZLS1, h-eag, hEAG, hEAG1
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs727502819	T>C	Pathogenic	Coding sequence variant, missense variant
rs727502820	G>A	Pathogenic	Coding sequence variant, missense variant
rs727502821	T>C	Pathogenic	Coding sequence variant, missense variant
rs727502822	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs730882172	G>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs730882173	C>G	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs730882174	C>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs730882175	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs730882176	G>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs878853026	A>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs886041300	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1064794817	T>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1553344875	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553345948	G>A	Pathogenic	Coding sequence variant, missense variant
rs1558569964	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1558570102	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1574266171	G>T	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006973	hsa-miR-296-3p	Luciferase reporter assay, qRT-PCR, Western blot	22999387
MIRT006973	hsa-miR-296-3p	Luciferase reporter assay, qRT-PCR, Western blot	22999387
MIRT018512	hsa-miR-335-5p	Microarray	18185580
MIRT054245	hsa-miR-34a-5p	Western blot	23569431
MIRT724318	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT724317	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT724316	hsa-miR-4269	HITS-CLIP	19536157
MIRT724315	hsa-miR-6715b-5p	HITS-CLIP	19536157
MIRT724314	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT724312	hsa-miR-4673	HITS-CLIP	19536157
MIRT724313	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT724311	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT724310	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT724309	hsa-miR-4290	HITS-CLIP	19536157
MIRT724308	hsa-miR-505-3p	HITS-CLIP	19536157
MIRT724307	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT724306	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT484323	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT484322	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT484321	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT484320	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT484319	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT484317	hsa-miR-4257	PAR-CLIP	20371350
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT484315	hsa-miR-615-5p	PAR-CLIP	20371350
MIRT484314	hsa-miR-7704	PAR-CLIP	20371350
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT484317	hsa-miR-4257	PAR-CLIP	20371350
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT484315	hsa-miR-615-5p	PAR-CLIP	20371350
MIRT484314	hsa-miR-7704	PAR-CLIP	20371350
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	23592263
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT484323	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT484322	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT484321	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT484320	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT484319	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT484317	hsa-miR-4257	PAR-CLIP	23592263
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT484315	hsa-miR-615-5p	PAR-CLIP	23592263
MIRT484314	hsa-miR-7704	PAR-CLIP	23592263
MIRT724318	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT724317	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT724316	hsa-miR-4269	HITS-CLIP	19536157
MIRT724315	hsa-miR-6715b-5p	HITS-CLIP	19536157
MIRT724314	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT724312	hsa-miR-4673	HITS-CLIP	19536157
MIRT724313	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT724311	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT724310	hsa-miR-1233-3p	HITS-CLIP	19536157
MIRT724309	hsa-miR-4290	HITS-CLIP	19536157
MIRT724308	hsa-miR-505-3p	HITS-CLIP	19536157
MIRT724307	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT724306	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT484323	hsa-miR-4436b-3p	PAR-CLIP	20371350
MIRT484322	hsa-miR-4632-5p	PAR-CLIP	20371350
MIRT484321	hsa-miR-6735-5p	PAR-CLIP	20371350
MIRT484320	hsa-miR-6879-5p	PAR-CLIP	20371350
MIRT484319	hsa-miR-7843-5p	PAR-CLIP	20371350
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT484317	hsa-miR-4257	PAR-CLIP	20371350
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT484315	hsa-miR-615-5p	PAR-CLIP	20371350
MIRT484314	hsa-miR-7704	PAR-CLIP	20371350
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	20371350
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	20371350
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT484317	hsa-miR-4257	PAR-CLIP	20371350
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT484315	hsa-miR-615-5p	PAR-CLIP	20371350
MIRT484314	hsa-miR-7704	PAR-CLIP	20371350
MIRT484326	hsa-miR-1911-3p	PAR-CLIP	23592263
MIRT484324	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT484323	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT484322	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT484321	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT484320	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT484319	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT484318	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT484317	hsa-miR-4257	PAR-CLIP	23592263
MIRT484316	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT484315	hsa-miR-615-5p	PAR-CLIP	23592263
MIRT484314	hsa-miR-7704	PAR-CLIP	23592263
MIRT1081001	hsa-miR-1207-5p	CLIP-seq
MIRT1081002	hsa-miR-1271	CLIP-seq
MIRT1081003	hsa-miR-1286	CLIP-seq
MIRT1081004	hsa-miR-182	CLIP-seq
MIRT1081005	hsa-miR-1827	CLIP-seq
MIRT1081006	hsa-miR-24	CLIP-seq
MIRT1081007	hsa-miR-3200-5p	CLIP-seq
MIRT1081008	hsa-miR-340	CLIP-seq
MIRT1081009	hsa-miR-3646	CLIP-seq
MIRT1081010	hsa-miR-3688-3p	CLIP-seq
MIRT1081011	hsa-miR-3978	CLIP-seq
MIRT1081012	hsa-miR-4649-3p	CLIP-seq
MIRT1081013	hsa-miR-4700-3p	CLIP-seq
MIRT1081014	hsa-miR-4736	CLIP-seq
MIRT1081015	hsa-miR-4761-3p	CLIP-seq
MIRT1081016	hsa-miR-4763-3p	CLIP-seq
MIRT1081017	hsa-miR-4774-5p	CLIP-seq
MIRT1081018	hsa-miR-549	CLIP-seq
MIRT1081019	hsa-miR-580	CLIP-seq
MIRT1081020	hsa-miR-9	CLIP-seq
MIRT1081021	hsa-miR-96	CLIP-seq
MIRT1081022	hsa-miR-1248	CLIP-seq
MIRT1081023	hsa-miR-1264	CLIP-seq
MIRT1081024	hsa-miR-148a	CLIP-seq
MIRT1081025	hsa-miR-148b	CLIP-seq
MIRT1081026	hsa-miR-152	CLIP-seq
MIRT1081027	hsa-miR-19a	CLIP-seq
MIRT1081028	hsa-miR-19b	CLIP-seq
MIRT1081029	hsa-miR-216a	CLIP-seq
MIRT1081030	hsa-miR-216b	CLIP-seq
MIRT1081031	hsa-miR-3145-3p	CLIP-seq
MIRT1081032	hsa-miR-3148	CLIP-seq
MIRT1081033	hsa-miR-3168	CLIP-seq
MIRT1081034	hsa-miR-3180-5p	CLIP-seq
MIRT1081035	hsa-miR-3609	CLIP-seq
MIRT1081036	hsa-miR-3921	CLIP-seq
MIRT1081037	hsa-miR-3925-3p	CLIP-seq
MIRT1081038	hsa-miR-4502	CLIP-seq
MIRT1081039	hsa-miR-4503	CLIP-seq
MIRT1081040	hsa-miR-4653-5p	CLIP-seq
MIRT1081041	hsa-miR-4691-3p	CLIP-seq
MIRT1081042	hsa-miR-4697-3p	CLIP-seq
MIRT1081013	hsa-miR-4700-3p	CLIP-seq
MIRT1081043	hsa-miR-4757-5p	CLIP-seq
MIRT1081044	hsa-miR-4768-5p	CLIP-seq
MIRT1081045	hsa-miR-4777-5p	CLIP-seq
MIRT1081046	hsa-miR-4778-3p	CLIP-seq
MIRT1081047	hsa-miR-505	CLIP-seq
MIRT1081048	hsa-miR-512-3p	CLIP-seq
MIRT1081049	hsa-miR-518a-5p	CLIP-seq
MIRT1081050	hsa-miR-518d-5p	CLIP-seq
MIRT1081051	hsa-miR-519b-5p	CLIP-seq
MIRT1081052	hsa-miR-519c-5p	CLIP-seq
MIRT1081053	hsa-miR-520c-5p	CLIP-seq
MIRT1081054	hsa-miR-526a	CLIP-seq
MIRT1081055	hsa-miR-527	CLIP-seq
MIRT1081056	hsa-miR-542-3p	CLIP-seq
MIRT1081057	hsa-miR-548ah	CLIP-seq
MIRT1081058	hsa-miR-766	CLIP-seq
MIRT2020088	hsa-miR-1207-3p	CLIP-seq
MIRT2020089	hsa-miR-3135b	CLIP-seq
MIRT1081036	hsa-miR-3921	CLIP-seq
MIRT2020090	hsa-miR-4533	CLIP-seq
MIRT1081040	hsa-miR-4653-5p	CLIP-seq
MIRT2020091	hsa-miR-513c	CLIP-seq
MIRT2020092	hsa-miR-514b-5p	CLIP-seq
MIRT2251904	hsa-miR-3616-3p	CLIP-seq
MIRT2452173	hsa-miR-4254	CLIP-seq
MIRT2452174	hsa-miR-4434	CLIP-seq
MIRT2452175	hsa-miR-4516	CLIP-seq
MIRT2452176	hsa-miR-4531	CLIP-seq
MIRT2452177	hsa-miR-4688	CLIP-seq
MIRT2452178	hsa-miR-4786-3p	CLIP-seq
MIRT2452179	hsa-miR-486-3p	CLIP-seq
MIRT2452180	hsa-miR-490-3p	CLIP-seq
MIRT2452181	hsa-miR-619	CLIP-seq
MIRT2555209	hsa-miR-1243	CLIP-seq
MIRT2555210	hsa-miR-138	CLIP-seq
MIRT1081006	hsa-miR-24	CLIP-seq
MIRT2555211	hsa-miR-28-5p	CLIP-seq
MIRT2555212	hsa-miR-299-5p	CLIP-seq
MIRT2555213	hsa-miR-3139	CLIP-seq
MIRT2555214	hsa-miR-3202	CLIP-seq
MIRT2555215	hsa-miR-361-3p	CLIP-seq
MIRT2251904	hsa-miR-3616-3p	CLIP-seq
MIRT2555216	hsa-miR-3654	CLIP-seq
MIRT2555217	hsa-miR-4299	CLIP-seq
MIRT2555218	hsa-miR-4487	CLIP-seq
MIRT2020090	hsa-miR-4533	CLIP-seq
MIRT2555219	hsa-miR-4726-3p	CLIP-seq
MIRT2555220	hsa-miR-493	CLIP-seq
MIRT2555221	hsa-miR-708	CLIP-seq
MIRT2555210	hsa-miR-138	CLIP-seq
MIRT2555211	hsa-miR-28-5p	CLIP-seq
MIRT2555213	hsa-miR-3139	CLIP-seq
MIRT2555215	hsa-miR-361-3p	CLIP-seq
MIRT2251904	hsa-miR-3616-3p	CLIP-seq
MIRT2555217	hsa-miR-4299	CLIP-seq
MIRT2555218	hsa-miR-4487	CLIP-seq
MIRT2555219	hsa-miR-4726-3p	CLIP-seq
MIRT2555220	hsa-miR-493	CLIP-seq
MIRT2683205	hsa-miR-548ag	CLIP-seq
MIRT2683206	hsa-miR-548ai	CLIP-seq
MIRT2555221	hsa-miR-708	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	11943152, 22732247, 27005320, 27325704
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	TAS	9738473
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	20708613, 25416956
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	27005320, 27325704
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22732247
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	11943152
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	9738473
GO:0007520	Process	Myoblast fusion	TAS	9738473
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	11943152, 22732247
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	9738473
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030551	Function	Cyclic nucleotide binding	ISS
GO:0031901	Component	Early endosome membrane	IDA	22841712
GO:0031901	Component	Early endosome membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042127	Process	Regulation of cell population proliferation	IMP	23881642
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071277	Process	Cellular response to calcium ion	IMP	27005320, 27325704
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	22732247, 27005320, 27325704
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:1902936	Function	Phosphatidylinositol bisphosphate binding	IDA	27005320

Other IDs

• MIM: 603305
• HGNC: 6250
• e!Ensembl: ENSG00000143473

Protein

• UniProt ID: O95259
• Protein name: Voltage-gated delayed rectifier potassium channel KCNH1 (Ether-a-go-go potassium channel 1) (EAG channel 1) (h-eag) (hEAG1) (Potassium voltage-gated channel subfamily H member 1) (Voltage-gated potassium channel subunit Kv10.1)
• Protein function: Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarization, reaches a steady-state level and do not inactivate (PubMed:10880439, PubMed:1194315
• PDB: 5J7E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13426	PAS_9	30 → 135	PAS domain	Domain
  PF00520	Ion_trans	217 → 510	Ion transport protein	Family
  PF00027	cNMP_binding	599 → 684	Cyclic nucleotide-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues (PubMed:9738473). Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epitheli
• Sequence:

  MTMAGGRRGLVAPQNTFLENIVRRSNDTNFVLGNAQIVDWPIVYSNDGFCKLSGYHRAEV
  MQKSSTCSFMYGELTDKDTIEKVRQTFENYEMNSFEILMYKKNRTPVWFFVKIAPIRNEQ
  DKVVLFLCTFSDITAFKQPIEDDSCKGWGKFARLTRALTSSRGVLQQLAPSVQKGENVHK
  HSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCVFKTTWDWIILILTFYTAILVPYNVS
  FKTRQNNVAWLVVDSIVDVIFLVDIVLNFHTTFVGPAGEVISDPKLIRMNYLKTWFVIDL
  LSCLPYDVINAFENVDEVSAFMGDPGKIGFADQIPPPLEGRESQGISSLFSSLKVVRLLR
  LGRVARKLDHYIEYGAAVLVLLVCVFGLAAHWMACIWYSIGDYEIFDEDTKTIRNNSWLY
  QLAMDIGTPYQFNGSGSGKWEGGPSKNSVYISSLYFTMTSLTSVGFGNIAPSTDIEKIFA
  VAIMMIGSLLYATIFGNVTTIFQQMYANTNRYHEMLNSVRDFLKLYQVPKGLSERVMDYI
  VSTWSMSRGIDTEKVLQICPKDMRADICVHLNRKVFKEHPAFRLASDGCLRALAMEFQTV
  HCAPGDLIYHAGESVDSLCFVVSGSLEVIQDDEVVAILGKGDVFGDVFWKEATLAQSCAN
  VRALTYCDLHVIKRDALQKVLEFYTAFSHSFSRNLILTYNLRKRIVFRKISDVKREEEER
  MKRKNEAPLILPPDHPVRRLFQRFRQQKEARLAAERGGRDLDDLDVEKGNVLTEHASANH
  SLVKASVVTVRESPATPVSFQAASTSGVPDHAKLQAPGSECLGPKGGGGDCAKRKSWARF
  KDACGKSEDWNKVSKAESMETLPERTKASGEATLKKTDSCDSGITKSDLRLDNVGEARSP
  QDRSPILAEVKHSFYPIPEQTLQATVLEVRHELKEDIKALNAKMTNIEKQLSEILRILTS
  RRSSQSPQELFEISRPQSPESERDIFGAS

• Sequence length: 989

Pathways

Reactome:

Voltage gated Potassium channels

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
Abnormal facial shape	Likely pathogenic; Pathogenic	rs886041300	RCV001003573	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs886041300	RCV005625494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNH1-related disorder	Likely pathogenic; Pathogenic	rs886041300, rs2526835712, rs2526809987	RCV004547654 RCV003233408 RCV004548604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNH1-related phenotype	Likely pathogenic	rs1558570102	RCV000678981	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs878853026	RCV001375036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs886041300	RCV001003573	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs886041300	RCV001003573	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Temple-Baraitser syndrome	Likely pathogenic; Pathogenic	rs2102561827, rs727502819, rs727502820, rs727502821, rs727502822, rs730882175, rs886041300, rs1553345948	RCV002254215 RCV000149910 RCV000149911 RCV000149912 RCV000149913 RCV002464134 RCV001262681 RCV004767323	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Zimmermann-Laband syndrome 1	Likely pathogenic; Pathogenic	rs1684483227, rs727502819, rs730882175, rs730882173, rs730882176, rs730882174, rs730882172, rs886041300	RCV001337057 RCV000185590 RCV000190321 RCV000190320 RCV000185592 RCV000190319 RCV000190322 RCV003223540 RCV001251120	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNH1 associated disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZIMMERMANN-LABAND SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	17451210		★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35639255	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	37817707	Associate	★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	25420144, 29942082		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36285361, 37817707	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17520698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	19932096, 22495877, 22778627, 22984610, 25280486, 28070819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	14985237, 24838727, 26823849, 31184333, 32161292, 39456830	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21315112	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21655246, 31184333, 35639255	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	26823849	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21508374, 29263676		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40302348	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	22248279		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20682996, 21887469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	21887469		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20682996, 21887469		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	35639255	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17451210		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17451210	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ 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
Coronary Aneurysm	Coronary Aneurysm	BEFREE	31847810		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31847810	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30149017		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33594261, 35639255	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	31847810	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31029925		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25420144, 26818738, 27267311, 30149017		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	CTD_human_DG	25420144, 29942082		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	33494179, 35639255, 36285361	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy Generalized	Generalized epilepsy	Pubtator	33494179	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	25420144, 29942082		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	33494179	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	10799273		★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	33594261	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22999387		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22999387		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23482755		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26818738		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	22466864		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	15548764		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	20105281		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30882592		★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	33594261	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10799273, 26264464		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33494179	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Neoplasms	Kidney neoplasm	Pubtator	40302348	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22778627		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20105281	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	25136578		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	25136578		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	25136578		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25783527		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17451210	Associate	★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	22466864		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17520698		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19932096, 22495877, 22778627, 22984610, 25280486, 28070819		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21508374, 29263676		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17873312		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15364405, 19351862, 20105281, 21508374, 21887469, 22248279, 22778627, 23145797, 23569431, 24062569, 25495694, 25783527, 26783521, 28160046, 29307346		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20682996, 21887469		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17520698		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17520698		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17520698		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25280486		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17520698		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus syndrome congenital	Melanocytic nevus	Pubtator	37817707	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10799273		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	31847810	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17022810, 21508374, 21887469, 22466864, 22984610, 23202914, 25280486, 28160046, 28367272, 28902151, 30362536		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26818738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	22248279, 23145797, 23202914, 23569431, 24694542, 26783521		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CTD_human_DG	22248279		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	36142445	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21138547	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	19351862		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	23413122	Associate	★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21899742	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	31973216	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20933057		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	35639255	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36285361	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	36285361	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18080766		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18080766		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	22466864		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	36285361	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17873312		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17873312		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temple-Baraitser Syndrome	Temple-Baraitser Syndrome	BEFREE	25420144, 26264464, 26818738, 27267311, 27282200		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temple-Baraitser Syndrome	Temple-Baraitser Syndrome	UNIPROT_DG	25420144		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temple-Baraitser Syndrome	Temple-Baraitser Syndrome	CTD_human_DG	25420144		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temple-Baraitser Syndrome	Temple-Baraitser Syndrome	ORPHANET_DG	25420144		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temple-Baraitser Syndrome	Temple-Baraitser Syndrome	GENOMICS_ENGLAND_DG	25420144		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temple-Baraitser syndrome	Temple-Baraitser Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temple-Baraitser Syndrome	Temple-Baraitser Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26823849	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24819656	Associate	★☆☆☆☆ Found in Text Mining only
Zimmerman Laband syndrome	Zimmerman Laband Syndrome	BEFREE	25915598, 26264464, 26818738, 27267311, 27282200		★☆☆☆☆ Found in Text Mining only
Zimmerman Laband syndrome	Zimmerman Laband Syndrome	CTD_human_DG	25915598		★☆☆☆☆ Found in Text Mining only
Zimmerman Laband syndrome	Zimmerman Laband Syndrome	ORPHANET_DG	25915598		★☆☆☆☆ Found in Text Mining only
Zimmermann-Laband syndrome	Zimmerman Laband Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZIMMERMANN-LABAND SYNDROME 1	Zimmerman Laband Syndrome	UNIPROT_DG	25915598		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ZIMMERMANN-LABAND SYNDROME 1	Zimmerman Laband Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)