TTLL5 (tubulin tyrosine ligase like 5)

Gene

• Entrez ID: 23093
• Gene name: Tubulin tyrosine ligase like 5
• Gene symbol: TTLL5
• Synonyms (NCBI Gene): CORD19, KIAA0998, STAMP
• Chromosome: 14
• Chromosome location: 14q24.3
• Summary: This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17849666	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142169707	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs185326652	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199882533	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs587777469	AGAG>-,AG	Pathogenic	Coding sequence variant, frameshift variant
rs587777470	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587777471	G>A	Pathogenic	Coding sequence variant, stop gained
rs753018563	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs886043466	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1439202144	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555344661	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555345387	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555384338	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566585766	G>A	Pathogenic	Splice donor variant
rs1595009158	G>A	Pathogenic	Splice donor variant
rs1595168879	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017876	hsa-miR-335-5p	Microarray	18185580
MIRT571288	hsa-miR-4475	PAR-CLIP	20371350
MIRT571287	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT571286	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT571285	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT571284	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT571283	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT571282	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT571281	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT571280	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT571279	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT571278	hsa-miR-6889-3p	PAR-CLIP	20371350
MIRT571276	hsa-miR-5008-3p	PAR-CLIP	20371350
MIRT571277	hsa-miR-6737-3p	PAR-CLIP	20371350
MIRT571275	hsa-miR-7157-3p	PAR-CLIP	20371350
MIRT571274	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571273	hsa-miR-107	PAR-CLIP	20371350
MIRT571272	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT571271	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT571288	hsa-miR-4475	PAR-CLIP	20371350
MIRT571287	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT571286	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT571285	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT571284	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT571283	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT571282	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT571281	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT571280	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT571279	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT571278	hsa-miR-6889-3p	PAR-CLIP	20371350
MIRT571276	hsa-miR-5008-3p	PAR-CLIP	20371350
MIRT571277	hsa-miR-6737-3p	PAR-CLIP	20371350
MIRT571275	hsa-miR-7157-3p	PAR-CLIP	20371350
MIRT571274	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571273	hsa-miR-107	PAR-CLIP	20371350
MIRT571272	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT571271	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT530859	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT530858	hsa-miR-3121-3p	PAR-CLIP	22012620
MIRT530857	hsa-miR-3148	PAR-CLIP	22012620
MIRT530856	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT571288	hsa-miR-4475	PAR-CLIP	20371350
MIRT571287	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT571286	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT571285	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT571284	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT571283	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT571282	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT571281	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT571280	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT571279	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT571278	hsa-miR-6889-3p	PAR-CLIP	20371350
MIRT571276	hsa-miR-5008-3p	PAR-CLIP	20371350
MIRT571277	hsa-miR-6737-3p	PAR-CLIP	20371350
MIRT571275	hsa-miR-7157-3p	PAR-CLIP	20371350
MIRT571274	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571273	hsa-miR-107	PAR-CLIP	20371350
MIRT571272	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT571271	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT571288	hsa-miR-4475	PAR-CLIP	20371350
MIRT571287	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT571286	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT571285	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT571284	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT571283	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT571282	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT571281	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT571280	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT571279	hsa-miR-545-5p	PAR-CLIP	20371350
MIRT571278	hsa-miR-6889-3p	PAR-CLIP	20371350
MIRT571276	hsa-miR-5008-3p	PAR-CLIP	20371350
MIRT571277	hsa-miR-6737-3p	PAR-CLIP	20371350
MIRT571275	hsa-miR-7157-3p	PAR-CLIP	20371350
MIRT571274	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT571273	hsa-miR-107	PAR-CLIP	20371350
MIRT571272	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT571271	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT530859	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT530858	hsa-miR-3121-3p	PAR-CLIP	22012620
MIRT530857	hsa-miR-3148	PAR-CLIP	22012620
MIRT530856	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT1462466	hsa-miR-1207-3p	CLIP-seq
MIRT1462467	hsa-miR-1275	CLIP-seq
MIRT1462468	hsa-miR-1299	CLIP-seq
MIRT1462469	hsa-miR-1323	CLIP-seq
MIRT1462470	hsa-miR-1912	CLIP-seq
MIRT1462471	hsa-miR-300	CLIP-seq
MIRT1462472	hsa-miR-3125	CLIP-seq
MIRT1462473	hsa-miR-3194-3p	CLIP-seq
MIRT1462474	hsa-miR-3622b-5p	CLIP-seq
MIRT1462475	hsa-miR-3675-5p	CLIP-seq
MIRT1462476	hsa-miR-381	CLIP-seq
MIRT1462477	hsa-miR-3916	CLIP-seq
MIRT1462478	hsa-miR-410	CLIP-seq
MIRT1462479	hsa-miR-4253	CLIP-seq
MIRT1462480	hsa-miR-4260	CLIP-seq
MIRT1462481	hsa-miR-4480	CLIP-seq
MIRT1462482	hsa-miR-4488	CLIP-seq
MIRT1462483	hsa-miR-4665-5p	CLIP-seq
MIRT1462484	hsa-miR-4697-5p	CLIP-seq
MIRT1462485	hsa-miR-4711-5p	CLIP-seq
MIRT1462486	hsa-miR-4747-5p	CLIP-seq
MIRT1462487	hsa-miR-486-3p	CLIP-seq
MIRT1462488	hsa-miR-548ag	CLIP-seq
MIRT1462489	hsa-miR-548ai	CLIP-seq
MIRT1462490	hsa-miR-548o	CLIP-seq
MIRT1462491	hsa-miR-548p	CLIP-seq
MIRT1462492	hsa-miR-595	CLIP-seq
MIRT1462493	hsa-miR-648	CLIP-seq
MIRT1462494	hsa-miR-875-3p	CLIP-seq
MIRT1557212	hsa-miR-1251	CLIP-seq
MIRT1557213	hsa-miR-3183	CLIP-seq
MIRT1557214	hsa-miR-4279	CLIP-seq
MIRT1557215	hsa-miR-4723-3p	CLIP-seq
MIRT1557212	hsa-miR-1251	CLIP-seq
MIRT2139106	hsa-miR-1304	CLIP-seq
MIRT1462469	hsa-miR-1323	CLIP-seq
MIRT1462470	hsa-miR-1912	CLIP-seq
MIRT2139107	hsa-miR-2110	CLIP-seq
MIRT2139108	hsa-miR-3124-3p	CLIP-seq
MIRT2139109	hsa-miR-3144-5p	CLIP-seq
MIRT2139110	hsa-miR-3150a-3p	CLIP-seq
MIRT2139111	hsa-miR-3156-5p	CLIP-seq
MIRT2139112	hsa-miR-3160-5p	CLIP-seq
MIRT1557213	hsa-miR-3183	CLIP-seq
MIRT2139113	hsa-miR-3191	CLIP-seq
MIRT2139114	hsa-miR-3679-3p	CLIP-seq
MIRT2139115	hsa-miR-4252	CLIP-seq
MIRT1462480	hsa-miR-4260	CLIP-seq
MIRT2139116	hsa-miR-4268	CLIP-seq
MIRT1557214	hsa-miR-4279	CLIP-seq
MIRT2139117	hsa-miR-4448	CLIP-seq
MIRT2139118	hsa-miR-4646-3p	CLIP-seq
MIRT2139119	hsa-miR-4652-5p	CLIP-seq
MIRT2139120	hsa-miR-4686	CLIP-seq
MIRT1557215	hsa-miR-4723-3p	CLIP-seq
MIRT1462490	hsa-miR-548o	CLIP-seq
MIRT2139121	hsa-miR-578	CLIP-seq
MIRT2139122	hsa-miR-767-3p	CLIP-seq
MIRT2359813	hsa-miR-103a	CLIP-seq
MIRT1557212	hsa-miR-1251	CLIP-seq
MIRT2359814	hsa-miR-15a	CLIP-seq
MIRT2359815	hsa-miR-15b	CLIP-seq
MIRT2359816	hsa-miR-16	CLIP-seq
MIRT2359817	hsa-miR-195	CLIP-seq
MIRT2359818	hsa-miR-3074-3p	CLIP-seq
MIRT1557213	hsa-miR-3183	CLIP-seq
MIRT2359819	hsa-miR-424	CLIP-seq
MIRT1557214	hsa-miR-4279	CLIP-seq
MIRT2359820	hsa-miR-4496	CLIP-seq
MIRT1557215	hsa-miR-4723-3p	CLIP-seq
MIRT2359821	hsa-miR-497	CLIP-seq
MIRT2139106	hsa-miR-1304	CLIP-seq
MIRT2653104	hsa-miR-1827	CLIP-seq
MIRT2139107	hsa-miR-2110	CLIP-seq
MIRT1462471	hsa-miR-300	CLIP-seq
MIRT2139109	hsa-miR-3144-5p	CLIP-seq
MIRT2139110	hsa-miR-3150a-3p	CLIP-seq
MIRT2139113	hsa-miR-3191	CLIP-seq
MIRT2653105	hsa-miR-3613-3p	CLIP-seq
MIRT1462476	hsa-miR-381	CLIP-seq
MIRT2139115	hsa-miR-4252	CLIP-seq
MIRT1462480	hsa-miR-4260	CLIP-seq
MIRT2139119	hsa-miR-4652-5p	CLIP-seq
MIRT1462486	hsa-miR-4747-5p	CLIP-seq
MIRT2653106	hsa-miR-545	CLIP-seq
MIRT1462488	hsa-miR-548ag	CLIP-seq
MIRT1462489	hsa-miR-548ai	CLIP-seq
MIRT1462491	hsa-miR-548p	CLIP-seq
MIRT1462492	hsa-miR-595	CLIP-seq
MIRT2653107	hsa-miR-711	CLIP-seq
MIRT2139122	hsa-miR-767-3p	CLIP-seq
MIRT2139106	hsa-miR-1304	CLIP-seq
MIRT2653104	hsa-miR-1827	CLIP-seq
MIRT2139107	hsa-miR-2110	CLIP-seq
MIRT1462471	hsa-miR-300	CLIP-seq
MIRT2139109	hsa-miR-3144-5p	CLIP-seq
MIRT2139110	hsa-miR-3150a-3p	CLIP-seq
MIRT2139113	hsa-miR-3191	CLIP-seq
MIRT1462476	hsa-miR-381	CLIP-seq
MIRT2139115	hsa-miR-4252	CLIP-seq
MIRT1462480	hsa-miR-4260	CLIP-seq
MIRT2139119	hsa-miR-4652-5p	CLIP-seq
MIRT1462486	hsa-miR-4747-5p	CLIP-seq
MIRT2653106	hsa-miR-545	CLIP-seq
MIRT1462488	hsa-miR-548ag	CLIP-seq
MIRT1462489	hsa-miR-548ai	CLIP-seq
MIRT1462491	hsa-miR-548p	CLIP-seq
MIRT1462492	hsa-miR-595	CLIP-seq
MIRT1462493	hsa-miR-648	CLIP-seq
MIRT2139122	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IEA
GO:0007288	Process	Sperm axoneme assembly	IBA
GO:0015631	Function	Tubulin binding	IBA
GO:0016874	Function	Ligase activity	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060041	Process	Retina development in camera-type eye	IMP	24791901
GO:0070740	Function	Tubulin-glutamic acid ligase activity	IBA
GO:0070740	Function	Tubulin-glutamic acid ligase activity	ISS
GO:0070740	Function	Tubulin-glutamic acid ligase activity	TAS
GO:0106437	Function	Protein-glutamic acid ligase activity, initiating	IEA
GO:0106438	Function	Protein-glutamic acid ligase activity, elongating	IEA

Other IDs

• MIM: 612268
• HGNC: 19963
• e!Ensembl: ENSG00000119685

Protein

• UniProt ID: Q6EMB2
• Protein name: Tubulin polyglutamylase TTLL5 (EC 6.3.2.-) (SRC1 and TIF2-associated modulatory protein) (STAMP protein) (Tubulin--tyrosine ligase-like protein 5)
• Protein function: Polyglutamylase which modifies tubulin, generating polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent initiation step of the polygluta
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03133	TTL	110 → 405	Tubulin-tyrosine ligase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retina, found in the rod and cone photoreceptors (at protein level). Widely expressed with highest levels in heart and skeletal muscle and low levels in other tissues. {ECO:0000269|PubMed:17116691, ECO:0000269|PubMed:2
• Sequence:

  MPIVMARDLEETASSSEDEEVISQEDHPCIMWTGGCRRIPVLVFHADAILTKDNNIRVIG
  ERYHLSYKIVRTDSRLVRSILTAHGFHEVHPSSTDYNLMWTGSHLKPFLLRTLSEAQKVN
  HFPRSYELTRKDRLYKNIIRMQHTHGFKAFHILPQTFLLPAEYAEFCNSYSKDRGPWIVK
  PVASSRGRGVYLINNPNQISLEENILVSRYINNPLLIDDFKFDVRLYVLVTSYDPLVIYL
  YEEGLARFATVRYDQGAKNIRNQFMHLTNYSVNKKSGDYVSCDDPEVEDYGNKWSMSAML
  RYLKQEGRDTTALMAHVEDLIIKTIISAELAIATACKTFVPHRSSCFELYGFDVLIDSTL
  KPWLLEVNLSPSLACDAPLDLKIKASMISDMFTVVGFVCQDPAQRASTRPIYPTFESSRR
  NPFQKPQRCRPLSASDAEMKNLVGSAREKGPGKLGGSVLGLSMEEIKVLRRVKEENDRRG
  GFIRIFPTSETWEIYGSYLEHKTSMNYMLATRLFQDRMTADGAPELKIESLNSKAKLHAA
  LYERKLLSLEVRKRRRRSSRLRAMRPKYPVITQPAEMNVKTETESEEEEEVALDNEDEEQ
  EASQEESAGFLRENQAKYTPSLTALVENTPKENSMKVREWNNKGGHCCKLETQELEPKFN
  LMQILQDNGNLSKMQARIAFSAYLQHVQIRLMKDSGGQTFSASWAAKEDEQMELVVRFLK
  RASNNLQHSLRMVLPSRRLALLERRRILAHQLGDFIIVYNKETEQMAEKKSKKKVEEEEE
  DGVNMENFQEFIRQASEAELEEVLTFYTQKNKSASVFLGTHSKISKNNNNYSDSGAKGDH
  PETIMEEVKIKPPKQQQTTEIHSDKLSRFTTSAEKEAKLVYSNSSSGPTATLQKIPNTHL
  SSVTTSDLSPGPCHHSSLSQIPSAIPSMPHQPTILLNTVSASASPCLHPGAQNIPSPTGL
  PRCRSGSHTIGPFSSFQSAAHIYSQKLSRPSSAKAGSCYLNKHHSGIAKTQKEGEDASLY
  SKRYNQSMVTAELQRLAEKQAARQYSPSSHINLLTQQVTNLNLATGIINRSSASAPPTLR
  PIISPSGPTWSTQSDPQAPENHSSSPGSRSLQTGGFAWEGEVENNVYSQATGVVPQHKYH
  PTAGSYQLQFALQQLEQQKLQSRQLLDQSRARHQAIFGSQTLPNSNLWTMNNGAGCRISS
  ATASGQKPTTLPQKVVPPPSSCASLVPKPPPNHEQVLRRATSQKASKGSSAEGQLNGLQS
  SLNPAAFVPITSSTDPAHTKI

• Sequence length: 1281

Pathways

Reactome:

Carboxyterminal post-translational modifications of tubulin

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
Central areolar choroidal dystrophy	Pathogenic	rs1400806789	RCV001199557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic	rs867401129	RCV005925723	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Pathogenic; Likely pathogenic	rs587777469, rs2503293795, rs1439202144, rs1887576038	RCV003324516 RCV003324680 RCV001199558 RCV003324550	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 19	Pathogenic; Likely pathogenic	rs774889687, rs777359273, rs587777469, rs587777470, rs587777471, rs199882533, rs2504215863, rs1555345387, rs138370992, rs772656461	RCV001780335 RCV005622249 RCV000128414 RCV000128415 RCV000128416 RCV000128417 RCV000128418 RCV005871190 RCV000625568 RCV003235462 RCV005235510	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1887579263	RCV005909132	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs541400148, rs199882533, rs753018563, rs745934202, rs1400806789, rs138370992, rs766173950, rs779740894, rs769845921, rs1887579263	RCV004815520 RCV001075160 RCV001075670 RCV001074576 RCV004818156 RCV004813686 RCV001075687 RCV001075724 RCV001074573 RCV004813975	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs1566585766, rs1595009158, rs745934202	RCV000678634 RCV001003237 RCV001199559	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TTLL5-related disorder	Likely pathogenic; Pathogenic	rs2504286530, rs781415819	RCV003393118 RCV003396719	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal sperm morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL AREOLAR CHOROIDAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligospermia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reduced sperm motility	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations