AGTPBP1 (ATP/GTP binding carboxypeptidase 1)

Gene

• Entrez ID: 23287
• Gene name: ATP/GTP binding carboxypeptidase 1
• Gene symbol: AGTPBP1
• Synonyms (NCBI Gene): CCP1, CONDCA, NNA1
• Chromosome: 9
• Chromosome location: 9q21.33
• Summary: NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs760300826	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs780631499	G>-	Pathogenic	Coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs943824159	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, intron variant
rs1554699491	C>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1564034077	T>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1564035967	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, intron variant
rs1564041582	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564046794	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1564069651	T>C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1564069807	A>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1564071824	A>C	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, 3 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019782	hsa-miR-375	Microarray	20215506
MIRT028252	hsa-miR-32-5p	Sequencing	20371350
MIRT637120	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT637118	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT637119	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT662818	hsa-miR-6083	HITS-CLIP	23824327
MIRT645352	hsa-miR-8062	HITS-CLIP	23824327
MIRT645351	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT645350	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT645349	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT645348	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT645347	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT645346	hsa-miR-1281	HITS-CLIP	23824327
MIRT645345	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT495044	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT495043	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT645344	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT645343	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT645342	hsa-miR-1297	HITS-CLIP	23824327
MIRT645341	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT645340	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT645339	hsa-miR-4465	HITS-CLIP	23824327
MIRT637120	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT637118	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT637119	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT496739	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT496738	hsa-miR-6830-5p	PAR-CLIP	22012620
MIRT528153	hsa-miR-3690	PAR-CLIP	22012620
MIRT528152	hsa-miR-4254	PAR-CLIP	22012620
MIRT528151	hsa-miR-6128	PAR-CLIP	22012620
MIRT528150	hsa-miR-615-5p	PAR-CLIP	22012620
MIRT515909	hsa-miR-4728-3p	PAR-CLIP	23446348
MIRT515908	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT515907	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT515906	hsa-miR-6134	PAR-CLIP	23446348
MIRT515905	hsa-miR-3689d	PAR-CLIP	23446348
MIRT515904	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT515903	hsa-miR-4653-3p	PAR-CLIP	23446348
MIRT515902	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT515901	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT515900	hsa-miR-7847-3p	PAR-CLIP	23446348
MIRT515899	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT515898	hsa-miR-548s	PAR-CLIP	23446348
MIRT515896	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT515897	hsa-miR-588	PAR-CLIP	23446348
MIRT515895	hsa-miR-4435	PAR-CLIP	23446348
MIRT515894	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT515893	hsa-miR-5096	PAR-CLIP	23446348
MIRT496739	hsa-miR-6507-5p	PAR-CLIP	22291592
MIRT496738	hsa-miR-6830-5p	PAR-CLIP	22291592
MIRT495048	hsa-miR-99a-3p	PAR-CLIP	23708386
MIRT495047	hsa-miR-99b-3p	PAR-CLIP	23708386
MIRT495046	hsa-miR-150-5p	PAR-CLIP	23708386
MIRT495045	hsa-miR-6778-3p	PAR-CLIP	23708386
MIRT495044	hsa-miR-6791-3p	PAR-CLIP	23708386
MIRT495043	hsa-miR-6829-3p	PAR-CLIP	23708386
MIRT495042	hsa-miR-6836-3p	PAR-CLIP	23708386
MIRT441754	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT441753	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT441751	hsa-miR-4735-5p	PAR-CLIP	22100165
MIRT441752	hsa-miR-4775	PAR-CLIP	22100165
MIRT441750	hsa-miR-576-5p	PAR-CLIP	22100165
MIRT441247	hsa-miR-493-5p	HITS-CLIP	24374217
MIRT441247	hsa-miR-493-5p	HITS-CLIP	24374217
MIRT645346	hsa-miR-1281	PAR-CLIP	27292025
MIRT645342	hsa-miR-1297	PAR-CLIP	27292025
MIRT645344	hsa-miR-23a-5p	PAR-CLIP	27292025
MIRT645343	hsa-miR-23b-5p	PAR-CLIP	27292025
MIRT645341	hsa-miR-26a-5p	PAR-CLIP	27292025
MIRT645340	hsa-miR-26b-5p	PAR-CLIP	27292025
MIRT645339	hsa-miR-4465	PAR-CLIP	27292025
MIRT645348	hsa-miR-4485-5p	PAR-CLIP	27292025
MIRT645350	hsa-miR-6513-3p	PAR-CLIP	27292025
MIRT645347	hsa-miR-660-3p	PAR-CLIP	27292025
MIRT495044	hsa-miR-6791-3p	PAR-CLIP	27292025
MIRT495043	hsa-miR-6829-3p	PAR-CLIP	27292025
MIRT645352	hsa-miR-8062	PAR-CLIP	27292025
MIRT637120	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT637118	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT637119	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT662818	hsa-miR-6083	HITS-CLIP	23824327
MIRT645352	hsa-miR-8062	HITS-CLIP	23824327
MIRT645351	hsa-miR-1285-5p	HITS-CLIP	23824327
MIRT645350	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT645349	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT645348	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT645347	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT645346	hsa-miR-1281	HITS-CLIP	23824327
MIRT645345	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT495044	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT495043	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT645344	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT645343	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT645342	hsa-miR-1297	HITS-CLIP	23824327
MIRT645341	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT645340	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT645339	hsa-miR-4465	HITS-CLIP	23824327
MIRT637120	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT637118	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT637119	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT496739	hsa-miR-6507-5p	PAR-CLIP	22012620
MIRT496738	hsa-miR-6830-5p	PAR-CLIP	22012620
MIRT528153	hsa-miR-3690	PAR-CLIP	22012620
MIRT528152	hsa-miR-4254	PAR-CLIP	22012620
MIRT528151	hsa-miR-6128	PAR-CLIP	22012620
MIRT528150	hsa-miR-615-5p	PAR-CLIP	22012620
MIRT515909	hsa-miR-4728-3p	PAR-CLIP	23446348
MIRT515908	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT515907	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT515906	hsa-miR-6134	PAR-CLIP	23446348
MIRT515905	hsa-miR-3689d	PAR-CLIP	23446348
MIRT515904	hsa-miR-6851-5p	PAR-CLIP	23446348
MIRT515903	hsa-miR-4653-3p	PAR-CLIP	23446348
MIRT515902	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT515901	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT515900	hsa-miR-7847-3p	PAR-CLIP	23446348
MIRT515899	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT515898	hsa-miR-548s	PAR-CLIP	23446348
MIRT515896	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT515897	hsa-miR-588	PAR-CLIP	23446348
MIRT515895	hsa-miR-4435	PAR-CLIP	23446348
MIRT515894	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT515893	hsa-miR-5096	PAR-CLIP	23446348
MIRT496739	hsa-miR-6507-5p	PAR-CLIP	22291592
MIRT496738	hsa-miR-6830-5p	PAR-CLIP	22291592
MIRT495048	hsa-miR-99a-3p	PAR-CLIP	23708386
MIRT495047	hsa-miR-99b-3p	PAR-CLIP	23708386
MIRT495046	hsa-miR-150-5p	PAR-CLIP	23708386
MIRT495045	hsa-miR-6778-3p	PAR-CLIP	23708386
MIRT495044	hsa-miR-6791-3p	PAR-CLIP	23708386
MIRT495043	hsa-miR-6829-3p	PAR-CLIP	23708386
MIRT495042	hsa-miR-6836-3p	PAR-CLIP	23708386
MIRT441754	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT441753	hsa-miR-590-3p	PAR-CLIP	22100165
MIRT441751	hsa-miR-4735-5p	PAR-CLIP	22100165
MIRT441752	hsa-miR-4775	PAR-CLIP	22100165
MIRT441750	hsa-miR-576-5p	PAR-CLIP	22100165
MIRT773116	hsa-miR-323b-3p	CLIP-seq
MIRT773117	hsa-miR-374c	CLIP-seq
MIRT773118	hsa-miR-4328	CLIP-seq
MIRT773119	hsa-miR-582-5p	CLIP-seq
MIRT773120	hsa-miR-605	CLIP-seq
MIRT773121	hsa-miR-655	CLIP-seq
MIRT1928222	hsa-miR-3185	CLIP-seq
MIRT2168953	hsa-miR-4436b-5p	CLIP-seq
MIRT2168954	hsa-miR-4539	CLIP-seq
MIRT2168955	hsa-miR-4698	CLIP-seq
MIRT2168956	hsa-miR-4778-5p	CLIP-seq
MIRT2168957	hsa-miR-603	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001754	Process	Eye photoreceptor cell differentiation	IEA
GO:0001754	Process	Eye photoreceptor cell differentiation	ISS
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IBA
GO:0004181	Function	Metallocarboxypeptidase activity	IDA	22170066
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	ISS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23085998
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	23085998
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0006508	Process	Proteolysis	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007628	Process	Adult walking behavior	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015631	Function	Tubulin binding	IBA
GO:0015631	Function	Tubulin binding	IEA
GO:0015631	Function	Tubulin binding	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021680	Process	Cerebellar Purkinje cell layer development	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	ISS
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021772	Process	Olfactory bulb development	ISS
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0030424	Component	Axon	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035608	Process	Protein deglutamylation	IMP	30420557
GO:0035609	Process	C-terminal protein deglutamylation	IDA	22170066
GO:0035609	Process	C-terminal protein deglutamylation	ISS
GO:0035610	Process	Protein side chain deglutamylation	IDA	22170066
GO:0035610	Process	Protein side chain deglutamylation	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0050905	Process	Neuromuscular process	ISS
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0098930	Process	Axonal transport	IEA
GO:0098957	Process	Anterograde axonal transport of mitochondrion	IEA
GO:0098958	Process	Retrograde axonal transport of mitochondrion	IEA
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IEA

Other IDs

• MIM: 606830
• HGNC: 17258
• e!Ensembl: ENSG00000135049

Protein

• UniProt ID: Q9UPW5
• Protein name: Cytosolic carboxypeptidase 1 (EC 3.4.17.-) (EC 3.4.17.24) (ATP/GTP-binding protein 1) (Nervous system nuclear protein induced by axotomy protein 1 homolog) (Protein deglutamylase CCP1)
• Protein function: Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins (PubMed:22170066, PubMed:24022482, PubMed:30420557). Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18027	Pepdidase_M14_N	712 → 847	Cytosolic carboxypeptidase N-terminal domain	Domain
  PF00246	Peptidase_M14	859 → 1063	Zinc carboxypeptidase	Domain

• Sequence:

  MSKLKVIPEKSLTNNSRIVGLLAQLEKINAEPSESDTARYVTSKILHLAQSQEKTRREMT
  AKGSTGMEILLSTLENTKDLQTTLNILSILVELVSAGGGRRVSFLVTKGGSQILLQLLMN
  ASKESPPHEDLMVQIHSILAKIGPKDKKFGVKARINGALNITLNLVKQNLQNHRLVLPCL
  QLLRVYSANSVNSVSLGKNGVVELMFKIIGPFSKKNSSLIKVALDTLAALLKSKTNARRA
  VDRGYVQVLLTIYVDWHRHDNRHRNMLIRKGILQSLKSVTNIKLGRKAFIDANGMKILYN
  TSQECLAVRTLDPLVNTSSLIMRKCFPKNRLPLPTIKSSFHFQLPVIPVTGPVAQLYSLP
  PEVDDVVDESDDNDDIDVEAENETENEDDLDQNFKNDDIETDINKLKPQQEPGRTIEDLK
  MYEHLFPELVDDFQDYDLISKEPKPFVFEGKVRGPIVVPTAGEETSGNSGNLRKVVMKEN
  ISSKGDEGEKKSTFMDLAKEDIKDNDRTLQQQPGDQNRTISSVHGLNNDIVKALDRITLQ
  NIPSQTAPGFTAEMKKDCSLPLTVLTCAKACPHMATCGNVLFEGRTVQLGKLCCTGVETE
  DDEDTESNSSVEQASVEVPDGPTLHDPDLYIEIVKNTKSVPEYSEVAYPDYFGHIPPPFK
  EPILERPYGVQRTKIAQDIERLIHQSDIIDRVVYDLDNPNYTIPEEGDILKFNSKFESGN
  LRKVIQIRKNEYDLILNSDINSNHYHQWFYFEVSGMRPGVAYRFNIINCEKSNSQFNYGM
  QPLMYSVQEALNARPWWIRMGTDICYYKNHFSRSSVAAGGQKGKSYYTITFTVNFPHKDD
  VCYFAYHYPYTYSTLQMHLQKLESAHNPQQIYFRKDVLCETLSGNSCPLVTITAMPESNY
  YEHICHFRNRPYVFLSARVHPGETNASWVMKGTLEYLMSNNPTAQSLRESYIFKIVPMLN
  PDGVINGNHRCSLSGEDLNRQWQSPSPDLHPTIYHAKGLLQYLAAVKRLPLVYCDYHGHS
  RKKNVFMYGCSIKETVWHTNDNATSCDVVEDTGYRTLPKILSHIAPAFCMSSCSFVVEKS
  KESTARVVVWREIGVQRSYTMESTLCGCDQGKYKGLQIGTRELEEMGAKFCVGLLRLKRL
  TSPLEYNLPSSLLDFENDLIESSCKVTSPTTYVLDEDEPRFLEEVDYSAESNDELDIELA
  ENVGDYEPSAQEEVLSDSELSRTYLP

• Sequence length: 1226

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
AGTPBP1-related disorder	Pathogenic	rs780631499, rs1554699491	RCV000625987 RCV000625986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplasia/Hypoplasia of the cerebellum	Likely pathogenic; Pathogenic	rs1564069807, rs1564069651, rs943824159	RCV000767880 RCV000767881 RCV000786855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs1564069807, rs1564069651, rs943824159	RCV000767880 RCV000767881 RCV000786855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor polyneuropathy	Likely pathogenic	rs1564069807	RCV000767880	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration, childhood-onset, with cerebellar atrophy	Likely pathogenic; Pathogenic	rs747285262, rs1829045299, rs1287669340, rs2537710137, rs2538292726, rs2537992540, rs780631499, rs1554699491, rs1564041582, rs760300826, rs1564034077, rs1564046794, rs1564071824, rs779664281, rs1183456608, rs1833598892	RCV001330541 RCV001785898 RCV003145835 RCV003154310 RCV003324719 RCV003493222 RCV000735995 RCV000735994 RCV000735996 RCV000735997 RCV000735998 RCV000735999 RCV000736001 RCV001263150 RCV001263149 RCV001265647	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	Likely pathogenic	rs1564046794	RCV001254700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHY/DEGENERATION AFFECTING THE CEREBELLUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA TYPE 1	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30976113	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	30976113	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	30905767, 31102495		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	30976113	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	14964689		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Impaired cognition	Impaired Cognition	BEFREE	14964689		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34655717	Associate	★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	31102495		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	30976113		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Lower	Motor Neuron Disease	BEFREE	22588130		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	30976113	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21118521		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY	Neurodegenerative Disorders with cerebellar atrophy	UNIPROT_DG	30420557		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY	Neurodegenerative Disorders with cerebellar atrophy	GENOMICS_ENGLAND_DG	30420557		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY	Neurodegenerative Disorders with cerebellar atrophy	BEFREE	31102495		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY	Neurodegenerative Disorders with cerebellar atrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30620913		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	30976113		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	30976113		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	30976113	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	30976113		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 1	Pontoneocerebellar hypoplasia	BEFREE	30976113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar Hypoplasia Type 1	Pontocerebellar hypoplasia	Pubtator	30976113	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pontocerebellar hypoplasia type 1	Pontoneocerebellar hypoplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	17464795, 30225910		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only