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 Pathways Associated diseases
Entrez ID	5625
Gene name	Proline dehydrogenase 1
Gene symbol	PRODH
Synonyms (NCBI Gene)	HSPOX2PIG6POXPRODH1TP53I6
Chromosome	22
Chromosome location	22q11.21
Summary	This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs450046	C>A,G,T	Risk-factor, benign, pathogenic	Coding sequence variant, missense variant
rs1807467	C>A	Risk-factor, pathogenic	Coding sequence variant, missense variant
rs2870984	G>A	Risk-factor, likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs2904551	A>G	Risk-factor, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs2904552	C>T	Risk-factor, pathogenic	Coding sequence variant, missense variant
rs3970559	G>A	Risk-factor, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs193919334	G>A,C,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs772562722	G>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004581	hsa-miR-23b-5p	Luciferase reporter assayqRT-PCRWestern blot	20562915
MIRT004581	hsa-miR-23b-5p	Luciferase reporter assayqRT-PCRWestern blot	20562915
MIRT2304431	hsa-miR-145	CLIP-seq
MIRT2304432	hsa-miR-1825	CLIP-seq
MIRT2304433	hsa-miR-1915	CLIP-seq
MIRT2304434	hsa-miR-199a-5p	CLIP-seq
MIRT2304435	hsa-miR-199b-5p	CLIP-seq
MIRT2304436	hsa-miR-3180-5p	CLIP-seq
MIRT2304437	hsa-miR-4514	CLIP-seq
MIRT2304438	hsa-miR-4645-5p	CLIP-seq
MIRT2304439	hsa-miR-4673	CLIP-seq
MIRT2304440	hsa-miR-4687-3p	CLIP-seq
MIRT2304441	hsa-miR-4692	CLIP-seq
MIRT2304442	hsa-miR-4726-3p	CLIP-seq
MIRT2304443	hsa-miR-4736	CLIP-seq
MIRT2304444	hsa-miR-940	CLIP-seq
MIRT2601355	hsa-miR-1205	CLIP-seq
MIRT2601356	hsa-miR-1207-3p	CLIP-seq
MIRT2601357	hsa-miR-1286	CLIP-seq
MIRT2601358	hsa-miR-140-5p	CLIP-seq
MIRT2601359	hsa-miR-299-5p	CLIP-seq
MIRT2601360	hsa-miR-4722-5p	CLIP-seq
MIRT2601361	hsa-miR-873	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
MYC	Repression	22615405

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004657	Function	Proline dehydrogenase activity	EXP	15662599
GO:0004657	Function	Proline dehydrogenase activity	IBA
GO:0004657	Function	Proline dehydrogenase activity	IDA	15662599
GO:0004657	Function	Proline dehydrogenase activity	IEA
GO:0004657	Function	Proline dehydrogenase activity	TAS	10192398
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006560	Process	Proline metabolic process	IEA
GO:0006560	Process	Proline metabolic process	TAS	9385373
GO:0006562	Process	L-proline catabolic process	IEA
GO:0006562	Process	L-proline catabolic process	TAS
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	NAS	9305847
GO:0010133	Process	L-proline catabolic process to L-glutamate	IBA
GO:0010133	Process	L-proline catabolic process to L-glutamate	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019470	Process	Trans-4-hydroxy-L-proline catabolic process	TAS	21998747
GO:0071949	Function	FAD binding	IBA
GO:0071949	Function	FAD binding	IDA	15662599
GO:1903376	Process	Regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	23743200

MIM	HGNC	e!Ensembl
606810	9453	ENSG00000100033

O43272

Protein name

Proline dehydrogenase 1, mitochondrial (EC 1.5.5.2) (Proline oxidase) (Proline oxidase 2) (p53-induced gene 6 protein)

Protein function

Converts proline to delta-1-pyrroline-5-carboxylate.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01619	Pro_dh	128 → 577	Proline dehydrogenase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.

Sequence

MALRRALPALRPCIPRFVQLSTAPASREQPAAGPAAVPGGGSATAVRPPVPAVDFGNAQE
AYRSRRTWELARSLLVLRLCAWPALLARHEQLLYVSRKLLGQRLFNKLMKMTFYGHFVAG
EDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQ
YQAHRAFGDRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGR
PQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDW
FTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRML
QRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAY
DNVTLDVELARREGWCFGAKLVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDY
VLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHQVYFGQLLGMCDQISFPLGQ
AGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA

Sequence length

600

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Metabolic pathways		Proline catabolism

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Proline dehydrogenase deficiency	Likely pathogenic; Pathogenic	rs2082011693, rs1305005935, rs2146223995, rs2517463579, rs755378169, rs193919334, rs2870997, rs2517455884, rs2517453236, rs2517460527, rs1347601186, rs780557421, rs772562722	RCV005032779 RCV001926788 RCV001893771 RCV003080250 RCV003100205 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia 4	Likely pathogenic; Pathogenic	rs2082011693, rs2870997, rs780557421	RCV005032779 RCV005028313 RCV005037023	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

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	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPROLINEMIA TYPE 1	—	ClinGen, GenCC, Orphanet ClinGen, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPROLINEMIA, TYPE I	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (90)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q11 Deletion Syndrome	22q11 deletion syndrome	Pubtator	17028864, 18989458, 21738766, 26055684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	18989458, 26068888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	CTD_human_DG	17412540		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amino Acid Metabolism, Inherited Disorders	Inherited Errors of Amino Acid Metabolism	CTD_human_DG	17412540		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28685754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	19232576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19232576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	25325218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25325218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19736351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	21448237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	18197084, 28331058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16389584, 17106420		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	28942439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28942439, 34085157, 34944532, 35163433, 35409177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31559416, 37564635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Catatonia	Catatonia	BEFREE	22401837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	GWASCAT_DG	29545352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26055684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11280728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15817612, 18794809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18794809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18794809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	18806117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	33707356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	8803768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38287255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	15662599, 18989458, 8803768		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	15662599, 18989458, 19420922, 25325218, 25981510, 26221035, 39496467	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	18806117, 26978485	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	33707356	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	22401837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	18197084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28245795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29694413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29694413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	25981510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24400131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heparin cofactor II deficiency (disorder)	Heparin cofactor II deficiency	BEFREE	8803768		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERGLYCINURIA (disorder)	Hyperglycinuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperprolinemia	Hyperprolinemia	BEFREE	12217952, 15494707, 15662599, 16389584, 17135275, 20524212, 24787057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperprolinemia	Hyperprolinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperprolinemia type 1	Hyperprolinemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperprolinemia type 2	Hyperprolinemia	Pubtator	15662599, 26978485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemic coma	Hypoglycemic coma	BEFREE	22401837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24787057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	18197084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GWASCAT_DG	29545352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	20562915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22615405	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	38255788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22401837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28942439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	20562915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19654292, 29681859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11280728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19383853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	16282778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	26895666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18794809, 19654292, 20562915, 22886911, 28990419		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	17412540		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	24218577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25325218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proline dehydrogenase deficiency	Proline Dehydrogenase Deficiency	BEFREE	12217952, 15662599, 17135275, 17412540, 18806117, 8803768, 9385373		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proline dehydrogenase deficiency	Proline Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	12217952, 18197084, 24816252		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proline dehydrogenase deficiency	Proline Dehydrogenase Deficiency	UNIPROT_DG	12217952, 15662599, 17135275		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proline dehydrogenase deficiency	Proline Dehydrogenase Deficiency	ORPHANET_DG	20524212, 23462603		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proline dehydrogenase deficiency	Proline Dehydrogenase Deficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Proline dehydrogenase deficiency	Proline Dehydrogenase Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prolinuria	Prolinuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	20562915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34670517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	16389584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	14618678, 15274030, 15582150, 15662599, 16389584, 16791139, 16860541, 17028864, 18163391, 18195713, 18528746, 18989458, 19232576, 23910792, 24218577 View all (6 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15274030, 18989458		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	15662599, 18806117, 18989458, 21645996, 24218577, 24787057, 27622935, 27846841, 37564635	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	16234811		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 4 (disorder)	Schizophrenia	UNIPROT_DG	11891283, 15662599		★★★★★ ★☆☆☆☆ Found in Text Mining only
SCHIZOPHRENIA 4 (disorder)	Schizophrenia	GENOMICS_ENGLAND_DG	12217952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	15662599, 17412540, 18989458, 26978485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	15662599, 8803768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	24400131, 25981510, 33707356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31559416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRODH (proline dehydrogenase 1)