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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	27286
Gene name	Sushi repeat containing protein X-linked 2
Gene symbol	SRPX2
Synonyms (NCBI Gene)	BPPCBPSPMGXRESDXSRPUL
Chromosome	X
Chromosome location	Xq22.1
Summary	This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs73636611	C>A,G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs121918363	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121918364	A>C	Pathogenic	Coding sequence variant, missense variant
rs139377205	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142719253	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs146051561	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs149051060	C>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs369663551	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs767072861	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs1556013503	C>T	Likely-pathogenic	Missense variant, coding sequence variant

128

Show/Hide all (128)

miRTarBase ID	miRNA	Experiments	Reference
MIRT709925	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT709924	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT709923	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT709922	hsa-miR-3685	HITS-CLIP	19536157
MIRT709921	hsa-miR-384	HITS-CLIP	19536157
MIRT709925	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT709924	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT709923	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT709922	hsa-miR-3685	HITS-CLIP	19536157
MIRT709921	hsa-miR-384	HITS-CLIP	19536157
MIRT653133	hsa-miR-548ao-5p	HITS-CLIP	23824327
MIRT653132	hsa-miR-548ax	HITS-CLIP	23824327
MIRT653131	hsa-miR-5585-5p	HITS-CLIP	23824327
MIRT653130	hsa-miR-8065	HITS-CLIP	23824327
MIRT653129	hsa-miR-623	HITS-CLIP	23824327
MIRT653128	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT653126	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT653127	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT622091	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT622090	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT622089	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT622088	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT622087	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT622086	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT622085	hsa-miR-4486	HITS-CLIP	23824327
MIRT622084	hsa-miR-4708-3p	HITS-CLIP	23824327
MIRT622083	hsa-miR-4252	HITS-CLIP	23824327
MIRT622082	hsa-miR-661	HITS-CLIP	23824327
MIRT622081	hsa-miR-31-5p	HITS-CLIP	23824327
MIRT622080	hsa-miR-3178	HITS-CLIP	23824327
MIRT622079	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT622078	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT622077	hsa-miR-7703	HITS-CLIP	23824327
MIRT622076	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT622075	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT622074	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT622073	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT516121	hsa-miR-1265	PAR-CLIP	20371350
MIRT516120	hsa-miR-4307	PAR-CLIP	20371350
MIRT516119	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT516118	hsa-miR-2052	PAR-CLIP	20371350
MIRT516117	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT516116	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT516115	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT516114	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT516121	hsa-miR-1265	PAR-CLIP	23446348
MIRT516120	hsa-miR-4307	PAR-CLIP	23446348
MIRT516119	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT516118	hsa-miR-2052	PAR-CLIP	23446348
MIRT516117	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT516116	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT516115	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT516114	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT709925	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT709924	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT709923	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT709922	hsa-miR-3685	HITS-CLIP	19536157
MIRT709921	hsa-miR-384	HITS-CLIP	19536157
MIRT709925	hsa-miR-29a-5p	HITS-CLIP	19536157
MIRT709924	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT709923	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT709922	hsa-miR-3685	HITS-CLIP	19536157
MIRT709921	hsa-miR-384	HITS-CLIP	19536157
MIRT653133	hsa-miR-548ao-5p	HITS-CLIP	23824327
MIRT653132	hsa-miR-548ax	HITS-CLIP	23824327
MIRT653131	hsa-miR-5585-5p	HITS-CLIP	23824327
MIRT653130	hsa-miR-8065	HITS-CLIP	23824327
MIRT653129	hsa-miR-623	HITS-CLIP	23824327
MIRT653128	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT653126	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT653127	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT622091	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT622090	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT622089	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT622088	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT622087	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT622086	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT622085	hsa-miR-4486	HITS-CLIP	23824327
MIRT622084	hsa-miR-4708-3p	HITS-CLIP	23824327
MIRT622083	hsa-miR-4252	HITS-CLIP	23824327
MIRT622082	hsa-miR-661	HITS-CLIP	23824327
MIRT622081	hsa-miR-31-5p	HITS-CLIP	23824327
MIRT622080	hsa-miR-3178	HITS-CLIP	23824327
MIRT622079	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT622078	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT622077	hsa-miR-7703	HITS-CLIP	23824327
MIRT622076	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT622075	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT622074	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT622073	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT516121	hsa-miR-1265	PAR-CLIP	20371350
MIRT516120	hsa-miR-4307	PAR-CLIP	20371350
MIRT516119	hsa-miR-3613-3p	PAR-CLIP	20371350
MIRT516118	hsa-miR-2052	PAR-CLIP	20371350
MIRT516117	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT516116	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT516115	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT516114	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT516121	hsa-miR-1265	PAR-CLIP	23446348
MIRT516120	hsa-miR-4307	PAR-CLIP	23446348
MIRT516119	hsa-miR-3613-3p	PAR-CLIP	23446348
MIRT516118	hsa-miR-2052	PAR-CLIP	23446348
MIRT516117	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT516116	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT516115	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT516114	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT2632938	hsa-miR-1224-3p	CLIP-seq
MIRT2632939	hsa-miR-1238	CLIP-seq
MIRT2632940	hsa-miR-3153	CLIP-seq
MIRT2632941	hsa-miR-4318	CLIP-seq
MIRT2632942	hsa-miR-4421	CLIP-seq
MIRT2632943	hsa-miR-4648	CLIP-seq
MIRT2632944	hsa-miR-4654	CLIP-seq
MIRT2632945	hsa-miR-4691-5p	CLIP-seq
MIRT2632946	hsa-miR-4769-5p	CLIP-seq
MIRT2632947	hsa-miR-570	CLIP-seq
MIRT2632948	hsa-miR-759	CLIP-seq
MIRT2632938	hsa-miR-1224-3p	CLIP-seq
MIRT2632939	hsa-miR-1238	CLIP-seq
MIRT2632940	hsa-miR-3153	CLIP-seq
MIRT2632941	hsa-miR-4318	CLIP-seq
MIRT2632942	hsa-miR-4421	CLIP-seq
MIRT2632943	hsa-miR-4648	CLIP-seq
MIRT2632944	hsa-miR-4654	CLIP-seq
MIRT2632945	hsa-miR-4691-5p	CLIP-seq
MIRT2632946	hsa-miR-4769-5p	CLIP-seq
MIRT2632947	hsa-miR-570	CLIP-seq
MIRT2632948	hsa-miR-759	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
FOXP2	Unknown	20858596;21711233

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	18718938
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	18718938
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	9864177, 22242148
GO:0005737	Component	Cytoplasm	IDA	9864177, 19065654
GO:0005737	Component	Cytoplasm	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0036458	Function	Hepatocyte growth factor binding	IDA	22242148
GO:0042325	Process	Regulation of phosphorylation	IDA	19065654
GO:0042802	Function	Identical protein binding	IDA	24179158
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IEA
GO:0048870	Process	Cell motility	IDA	19065654
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IBA
GO:0051965	Process	Positive regulation of synapse assembly	IDA	24179158
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0060076	Component	Excitatory synapse	IEA
GO:0060076	Component	Excitatory synapse	ISS
GO:0071625	Process	Vocalization behavior	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IBA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	ISS
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IDA	19065654
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
300642	30668	ENSG00000102359

O60687

Protein name

Sushi repeat-containing protein SRPX2 (Sushi-repeat protein upregulated in leukemia)

Protein function

Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00084	Sushi	68 → 117	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	122 → 176	Sushi repeat (SCR repeat)	Domain
PF02494	HYR	177 → 259	HYR domain	Domain
PF00084	Sushi	264 → 319	Sushi repeat (SCR repeat)	Domain
PF13778	DUF4174	334 → 453	Domain of unknown function (DUF4174)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in neurons of the rolandic area of the brain (at protein level). Highly expressed in the brain, placenta, lung, trachea, uterus, adrenal gland, heart, ovary and placenta. Weakly expressed in the peripheral blood, brain and bo

Sequence

MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCY
TLNIQDGEATCYSPKGGNYHSSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQM
RCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRSRICMEDGRWSGGEPVCVDID
PPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIR
YTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQG
TPSRVCQSSRQWSGSPPICAPMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQ
ISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIREQQLSANIIEELRQFQRLTRSYFNMVL
IDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE

Sequence length

465

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	Pathogenic	rs771849296	RCV001170033	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
BILATERAL PERISYLVIAN POLYMICROGYRIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERISYLVIAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SPEECH DYSPRAXIA, X-LINKED	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY, SPEECH DYSPRAXIA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROLANDIC EPILEPSY-SPEECH DYSPRAXIA SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SRPX2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (78)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	23115050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	9250173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26191169, 31258775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29191809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	16497722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	20858596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral perisylvian polymicrogyria	Perisylvian Polymicrogyria	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30662000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26191169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	30393191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25167861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25167861	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25737434, 29511442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23115050, 25737434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Continuous spike and waves during slow sleep	Continuous spike and waves during slow sleep	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	19682046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18508238, 18718938, 20858596, 21293269, 22242148, 24179158, 30393191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	20858596, 22242148, 31056551	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	19682046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	18718938, 24995671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30551519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	37369713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	22242148	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26643178	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36412091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemifacial seizures	Hemifacial seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16497722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23871722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	24179158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	26191169, 28440294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28654796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	22242148, 25737434, 28654796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26191169, 31258775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29881288, 30537353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24700475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24700475, 28654796, 30551519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25737434, 29511442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30795533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16497722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24700475, 29881288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30393191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26191169, 31258775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	26191169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26191169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian Syndrome	BEFREE	16497722, 18718938, 20858596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Perisylvian syndrome	Perisylvian Syndrome	ORPHANET_DG	16497722		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Perisylvian syndrome	Perisylvian Syndrome	GENOMICS_ENGLAND_DG	16497722		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria	Polymicrogyria	BEFREE	18718938, 19245832, 20858596, 24072599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	20858596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29881288, 30537353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rolandic epilepsy	Rolandic Epilepsy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rolandic epilepsy-speech dyspraxia syndrome	Rolandic Epilepsy-Speech Dyspraxia Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	18718938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30551519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32455867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24700475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26191169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	37306872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SRPX2 (sushi repeat containing protein X-linked 2)