Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	150468
Gene name	Cytoskeleton associated protein 2 like
Gene symbol	CKAP2L
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q14.1
Summary	The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35593767	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs548949031	A>G	Pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs727502802	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs727502803	->AA	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs727502804	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs727502805	TT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs755184431	CT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs778989224	GTTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1553442237	ATTTACCATTTCCTTGATCTGTTAACTGCTGCTTTGTAGTTTTCAATTGCTCTATATTAAGTGACCCCACAGGTTTTCTTGACAGTTCTCCTGTTGTGGACGATCCAGCTTCACACTGTTGAAAACTCTTGCTAGAAGGCTTAGAGTATGGGTTAGAAGAAACACATTCTGAAGTCAGCCTTTTGCCCAGAAGTTTTGGTGGCTCCAACTTCGGCTTCTGGGACCCTGCAGTATTAGGTGGTCTGGGCTGGAGTT	Pathogenic	Splice acceptor variant, splice donor variant, non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1574326802	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

190

Show/Hide all (190)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016097	hsa-miR-769-5p	Sequencing	20371350
MIRT016509	hsa-miR-193b-3p	Microarray	20304954
MIRT024751	hsa-miR-215-5p	Microarray	19074876
MIRT026525	hsa-miR-192-5p	Microarray	19074876
MIRT048215	hsa-miR-196a-5p	CLASH	23622248
MIRT715952	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT715951	hsa-miR-4729	HITS-CLIP	19536157
MIRT715950	hsa-miR-431-5p	HITS-CLIP	19536157
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT625136	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT625135	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT572346	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT572344	hsa-miR-3612	HITS-CLIP	23824327
MIRT572343	hsa-miR-650	HITS-CLIP	23824327
MIRT572342	hsa-miR-31-5p	HITS-CLIP	23824327
MIRT572339	hsa-miR-8055	HITS-CLIP	23824327
MIRT572338	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT572346	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT572345	hsa-miR-873-3p	PAR-CLIP	20371350
MIRT572344	hsa-miR-3612	PAR-CLIP	20371350
MIRT572343	hsa-miR-650	PAR-CLIP	20371350
MIRT572342	hsa-miR-31-5p	PAR-CLIP	20371350
MIRT572340	hsa-miR-3672	PAR-CLIP	20371350
MIRT572341	hsa-miR-6864-3p	PAR-CLIP	20371350
MIRT572339	hsa-miR-8055	PAR-CLIP	20371350
MIRT572338	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT570807	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT570806	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT570805	hsa-miR-8073	PAR-CLIP	20371350
MIRT570804	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT570803	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT570802	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT570801	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT570800	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT570799	hsa-miR-3661	PAR-CLIP	20371350
MIRT570798	hsa-miR-631	PAR-CLIP	20371350
MIRT016097	hsa-miR-769-5p	PAR-CLIP	20371350
MIRT570797	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570796	hsa-miR-4784	PAR-CLIP	20371350
MIRT570795	hsa-miR-4689	PAR-CLIP	20371350
MIRT570794	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT572338	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT572340	hsa-miR-3672	HITS-CLIP	27418678
MIRT715950	hsa-miR-431-5p	HITS-CLIP	27418678
MIRT572341	hsa-miR-6864-3p	HITS-CLIP	27418678
MIRT572339	hsa-miR-8055	HITS-CLIP	27418678
MIRT572345	hsa-miR-873-3p	HITS-CLIP	27418678
MIRT715952	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT715951	hsa-miR-4729	HITS-CLIP	19536157
MIRT715950	hsa-miR-431-5p	HITS-CLIP	19536157
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT625136	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT625135	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT617332	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT617331	hsa-miR-410-3p	HITS-CLIP	23824327
MIRT617330	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT617329	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT617328	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT572346	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT572344	hsa-miR-3612	HITS-CLIP	23824327
MIRT572343	hsa-miR-650	HITS-CLIP	23824327
MIRT572342	hsa-miR-31-5p	HITS-CLIP	23824327
MIRT572339	hsa-miR-8055	HITS-CLIP	23824327
MIRT572338	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT572346	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT572345	hsa-miR-873-3p	PAR-CLIP	20371350
MIRT572344	hsa-miR-3612	PAR-CLIP	20371350
MIRT572343	hsa-miR-650	PAR-CLIP	20371350
MIRT572342	hsa-miR-31-5p	PAR-CLIP	20371350
MIRT572340	hsa-miR-3672	PAR-CLIP	20371350
MIRT572341	hsa-miR-6864-3p	PAR-CLIP	20371350
MIRT572339	hsa-miR-8055	PAR-CLIP	20371350
MIRT572338	hsa-miR-129-5p	PAR-CLIP	20371350
MIRT570807	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT570806	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT570805	hsa-miR-8073	PAR-CLIP	20371350
MIRT570804	hsa-miR-4649-3p	PAR-CLIP	20371350
MIRT570803	hsa-miR-7162-3p	PAR-CLIP	20371350
MIRT570802	hsa-miR-4720-5p	PAR-CLIP	20371350
MIRT570801	hsa-miR-4799-3p	PAR-CLIP	20371350
MIRT570800	hsa-miR-5588-5p	PAR-CLIP	20371350
MIRT570799	hsa-miR-3661	PAR-CLIP	20371350
MIRT570798	hsa-miR-631	PAR-CLIP	20371350
MIRT016097	hsa-miR-769-5p	PAR-CLIP	20371350
MIRT570797	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT570796	hsa-miR-4784	PAR-CLIP	20371350
MIRT570795	hsa-miR-4689	PAR-CLIP	20371350
MIRT570794	hsa-miR-6858-5p	PAR-CLIP	20371350
MIRT894118	hsa-miR-1237	CLIP-seq
MIRT894119	hsa-miR-3163	CLIP-seq
MIRT894120	hsa-miR-3649	CLIP-seq
MIRT894121	hsa-miR-4265	CLIP-seq
MIRT894122	hsa-miR-4296	CLIP-seq
MIRT894123	hsa-miR-4322	CLIP-seq
MIRT894124	hsa-miR-4459	CLIP-seq
MIRT894125	hsa-miR-4648	CLIP-seq
MIRT894126	hsa-miR-4654	CLIP-seq
MIRT894127	hsa-miR-4714-3p	CLIP-seq
MIRT894128	hsa-miR-4762-3p	CLIP-seq
MIRT894129	hsa-miR-4769-5p	CLIP-seq
MIRT894130	hsa-miR-665	CLIP-seq
MIRT1965100	hsa-miR-3614-5p	CLIP-seq
MIRT1965101	hsa-miR-4520a-3p	CLIP-seq
MIRT1965102	hsa-miR-4520b-3p	CLIP-seq
MIRT1965103	hsa-miR-890	CLIP-seq
MIRT2201101	hsa-miR-1322	CLIP-seq
MIRT2678220	hsa-miR-1913	CLIP-seq
MIRT2678221	hsa-miR-324-3p	CLIP-seq
MIRT2678222	hsa-miR-331-3p	CLIP-seq
MIRT2678223	hsa-miR-4286	CLIP-seq
MIRT2678224	hsa-miR-4313	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0072686	Component	Mitotic spindle	IBA
GO:0072686	Component	Mitotic spindle	IDA

MIM	HGNC	e!Ensembl
616174	26877	ENSG00000169607

Q8IYA6

Protein name

Cytoskeleton-associated protein 2-like (Radial fiber and mitotic spindle protein) (Radmis)

Protein function

Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15297	CKAP2_C	423 → 660	Cytoskeleton-associated protein 2 C-terminus	Family
PF15297	CKAP2_C	673 → 734	Cytoskeleton-associated protein 2 C-terminus	Family

Sequence

MVGPGPTAAAAVEERQRKLQEYLAAKGKLKSQNTKPYLKSKNNCQNQPPSKSTIRPKNDV
TNHVVLPVKPKRSISIKLQPRPPNTAGSQKPKLEPPKLLGKRLTSECVSSNPYSKPSSKS
FQQCEAGSSTTGELSRKPVGSLNIEQLKTTKQQLTDQGNGKCIDFMNNIHVENESLDNFL
KETNKENLLDILTEPERKPDPKLYTRSKPKTDSYNQTKNSLVPKQALGKSSVNSAVLKDR
VNKQFVGETQSRTFPVKSQQLSRGADLARPGVKPSRTVPSHFIRTLSKVQSSKKPVVKNI
KDIKVNRSQYERPNETKIRSYPVTEQRVKHTKPRTYPSLLQGEYNNRHPNIKQDQKSSQV
CIPQTSCVLQKSKAISQRPNLTVGRFNSAIPSTPSIRPNGTSGNKHNNNGFQQKAQTLDS
KLKKAVPQNHFLNKTAPKTQADVTTVNGTQTNPNIKKKATAEDRRKQLEEWQKSKGKTYK
RPPMELKTKRKVIKEMNISFWKSIEKEEEEKKAQLELSSKINNTLTECLNLIEGGVPSNE
ILNILSSIPEAEKFAKFWICKAKLLASKGTFDVIGLYEEAIKNGATPIQELRKVVLNILQ
DSNRTTEGITSDSLVAETSITSVEELAKKMESVKSCLSPKEREQVTATPRIAKAEQHNYP
GIKLQIGPIPRINGMPEVQDMKFITPVRRSSRIERAVSRYPEMLQEHDLVVASLDELLEV
EETKCFIFRRNEALPVTLGFQTPES

Sequence length

745

Interactions

View interactions

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Filippi syndrome	Pathogenic; Likely pathogenic	rs201984824, rs751000250, rs1361993950, rs2104884982, rs727502802, rs548949031, rs727502803, rs727502804, rs1553442237, rs727502805, rs2467067801, rs781603729, rs755184431, rs778989224, rs1680053234	RCV001730757 RCV006249758 RCV001714245 RCV001780787 RCV000149779 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadism	Pathogenic	rs751000250	RCV001541899	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs751000250	RCV001541899	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CKAP2L-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (47)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-4 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30863084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	18723088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28619114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31758680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34699322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34308980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Filippi syndrome	Filippi Syndrome	GENOMICS_ENGLAND_DG	12416644, 25439729		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Filippi syndrome	Filippi Syndrome	BEFREE	25439729, 26956253		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Filippi syndrome	Filippi Syndrome	ORPHANET_DG	25439729		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Filippi syndrome	Filippi Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Filippi syndrome	Filippi Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Filippi syndrome	Filippi Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33375517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34631884	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	38303513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34921061	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	30863084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33375517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32130760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30863084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34921061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	25439729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32130760, 35715760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	26956253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	34921061	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36529823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CKAP2L (cytoskeleton associated protein 2 like)