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	79848
Gene name	Centrosome and spindle pole associated protein 1
Gene symbol	CSPP1
Synonyms (NCBI Gene)	CSPPCSPP-LJBTS21
Chromosome	8
Chromosome location	8q13.1-q13.2
Summary	This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in

Show/Hide all (29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200158932	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs374703898	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained, synonymous variant, 5 prime UTR variant
rs375113643	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs537456518	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587777138	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777139	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777140	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777142	G>A,T	Pathogenic	Splice donor variant
rs587777143	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777145	AAGA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587777146	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs750696284	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs761382780	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs766020802	AA>-	Pathogenic	Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs771203308	C>T	Pathogenic	Stop gained, coding sequence variant
rs863225190	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225191	AGAAGAA>-,AGAAGAAAGAAGAA	Pathogenic	Frameshift variant, coding sequence variant
rs863225192	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs863225193	G>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs863225194	G>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886044058	G>T	Pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs1021950925	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1189289587	GGAAGAAAGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1380418532	A>T	Pathogenic	Stop gained, coding sequence variant
rs1402669959	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1554562278	TA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1554604482	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554614893	TATCTATAGGAAAAAGGAAAGGAATCCCATGGATATATTTGATATGGCTAGACATCGGTTGCAAGCTCCTGTCAGAAGACAGTCCCCTAAGGGCTTAGACGCTGCCACTTTTCAGAATGTTCATGATTTTAATGAGCTGAAAGATAGAGGTGAGTAGATT>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant, splice acceptor variant
rs1563720581	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (20)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039226	hsa-miR-454-3p	CLASH	23622248
MIRT037940	hsa-miR-505-5p	CLASH	23622248
MIRT737353	hsa-miR-193a-5p	Luciferase reporter assayRNA-seqqRT-PCR	32612946
MIRT912916	hsa-miR-4522	CLIP-seq
MIRT912917	hsa-miR-944	CLIP-seq
MIRT1970759	hsa-miR-1244	CLIP-seq
MIRT1970760	hsa-miR-145	CLIP-seq
MIRT2206529	hsa-miR-199a-3p	CLIP-seq
MIRT2206530	hsa-miR-199b-3p	CLIP-seq
MIRT2206531	hsa-miR-204	CLIP-seq
MIRT2206532	hsa-miR-205	CLIP-seq
MIRT2206533	hsa-miR-211	CLIP-seq
MIRT2206534	hsa-miR-3129-5p	CLIP-seq
MIRT2206535	hsa-miR-4718	CLIP-seq
MIRT2206536	hsa-miR-4755-5p	CLIP-seq
MIRT2206537	hsa-miR-544	CLIP-seq
MIRT2206538	hsa-miR-579	CLIP-seq
MIRT2206539	hsa-miR-582-5p	CLIP-seq
MIRT2206540	hsa-miR-623	CLIP-seq
MIRT2206541	hsa-miR-936	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IBA
GO:0000922	Component	Spindle pole	IDA	19129481
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32453716, 36606424
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IDA	19129481
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IDA	36606424
GO:0005929	Component	Cilium	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IBA
GO:0032467	Process	Positive regulation of cytokinesis	IEA
GO:0032467	Process	Positive regulation of cytokinesis	IMP	19129481
GO:0034451	Component	Centriolar satellite	IDA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0051781	Process	Positive regulation of cell division	IMP	19129481

MIM	HGNC	e!Ensembl
611654	26193	ENSG00000104218

Q1MSJ5

Protein name

Centrosome and spindle pole-associated protein 1

Protein function

May play a role in cell-cycle-dependent microtubule organization.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult and fetal brain with enrichment in the cerebellum. Detected in testis. {ECO:0000269|PubMed:15580290, ECO:0000269|PubMed:24360807}.

Sequence

MLFPLQVAAVTSSVRDDPLEHCVSPRTRARSPEICKMADNLDEFIEEQKARLAEDKAELE
SDPPYMEMKGKLSAKLSENSKILISMAKENIPPNSQQTRGSLGIDYGLSLPLGEDYERKK
HKLKEELRQDYRRYLTQGITQGKRKKNFLSTSETDPSTLGVSLPIGERLSAKERLKLERN
KEYNQFLRGKEESSEKFRQVEKSTEPKSQRNKKPIGQVKPDLTSQIQTSCENSEGPRKDV
LTPSEAYEELLNQRRLEEDRYRQLDDEIELRNRRIIKKANEEVGISNLKHQRFASKAGIP
DRRFHRFNEDRVFDRRYHRPDQDPEVSEEMDERFRYESDFDRRLSRVYTNDRMHRNKRGN
MPPMEHDGDVIEQSNIRISSAENKSAPDNETSKSANQDTCSPFAGMLFGGEDRELIQRRK
EKYRLELLEQMAEQQRNKRREKDLELRVAASGAQDPEKSPDRLKQFSVAPRHFEEMIPPE
RPRIAFQTPLPPLSAPSVPPIPSVHPVPSQNEDLRSGLSSALGEMVSPRIAPLPPPPLLP
PLATNYRTPYDDAYYFYGSRNTFDPSLAYYGSGMMGVQPAAYVSAPVTHQLAQPVVNTVG
QNELKITSDQVINSGLIFEDKPKPSKQSLQSYQEALQQQIREREERRKKEREEKEEYEAK
LEAEMRTYNPWGKGGGGAPLRDAKGNLITDLNRMHRQNIDAYHNPDARTYEDKRAVVSLD
PNLATSNAENLEDAANKSSGHMQTQSSPFARGNVFGEPPTELQIKQQELYKNFLRFQIEE
KKQREEAERERLRIAEEKEERRLAEQRARIQQEYEEEQEKKREKEEEQRLKNEEHIRLAE
ERQKEAERKKKEEEEKYNLQLQHYCERDNLIGEETKHMRQPSPIVPALQNKIASKLQRPP
SVDSIIRSFIHESSMSRAQSPPVPARKNQLRAEEEKKNVIMELSEMRKQLRSEERRLQER
LLHMDSDDEIPIRKKERNPMDIFDMARHRLQAPVRRQSPKGLDAATFQNVHDFNELKDRD
SETRVDLKFMYLDPPRDHHTLEIQQQALLREQQKRLNRIKMQEGAKVDLDAIPSAKVREQ
RMPRDDTSDFLKNSLLESDSAFIGAYGETYPAIEDDVLPPPSQLPSARERRRNKWKGLDI
DSSRPNVAPDGLSLKSISSVNVDELRVRNEERMRRLNEFHNKPINTDDESSLVDPDDIMK
HIGDDGSNSVATEPWLRPGTSETLKRFMAEQLNQEQQQIPGKPGTFTWQGLSTAHG

Sequence length

1256

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CSPP1-related disorder	Pathogenic	rs587777138, rs587777145, rs1409618249, rs863225190	RCV004757126 RCV004757127 RCV004731211 RCV003982947	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs1294428066	RCV005415621	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 21	Pathogenic; Likely pathogenic	rs770296270, rs755739341, rs199791452, rs2129559034, rs752908017, rs760275528, rs1175214174, rs587777138, rs587777139, rs587777140, rs587777141, rs587777142, rs587777143, rs375113643, rs1554562278 View all (79 more)	RCV001332556 RCV001333223 RCV001377061 RCV001377434 RCV001382448 View all (92 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs199791452	RCV005912584	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-Gruber syndrome	Pathogenic; Likely pathogenic	rs587777145, rs1294428066	RCV000162164 RCV005415621	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs587777142	RCV005887785	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine carcinosarcoma	Likely pathogenic	rs199791452	RCV005912585	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs765909612	RCV005935052	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uveal melanoma	Pathogenic	rs760205035	RCV005909048	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DANDY-WALKER MALFORMATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; -	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (102)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	33270637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24901235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24901235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37722005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	24901235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	24901235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37722005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28901451	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30965236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24360803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	24360803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic liver disease	Cystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	26241740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	24360803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	24360803, 24360807, 24360808, 25693585, 31412255		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	24360803, 24360807, 24360808		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	24360803, 24360808		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	24360808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	24360803, 24360808		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 21	Joubert Syndrome	GENOMICS_ENGLAND_DG	24360803, 24360807, 24360808		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 21	Joubert Syndrome	CLINVAR_DG	24360808, 26092869		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	ORPHANET_DG	24360808		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24901235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30965236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24901235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	24360803, 24360807, 24360808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	24360803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	24360807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31651332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	BEFREE	24360803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30965236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	35578692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CSPP1 (centrosome and spindle pole associated protein 1)