Genes associated with “HYRPRO1”

50 genes foundOpen Targets: hyperprolinemia type 1
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
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Strong Candidates

1 gene
1
PRODH →

proline dehydrogenase 1

29
score
ClinGen: DefinitiveGTR ↑

{Schizophrenia, susceptibility to, 4}

Frequency
-
P/LP Variants
47
OT Score
0.82

Consider

5 genes
16DGCR6

DiGeorge syndrome critical region gene 6

13HYRPRO1

HYPERPROLINEMIA, TYPE I; HYRPRO1

10CLCN5
Def

chloride voltage-gated channel 5

10HSERVPRODH
10WT1
DefSF

WT1 transcription factor

Possible

20 genes — click to expand
8PRKDC
Def

protein kinase, DNA-activated, catalytic subunit

8LAMA5
Def

laminin subunit alpha 5

6OTC
DefSF

ornithine transcarbamylase

6COL4A5
Def

collagen type IV alpha 5 chain

6HNF1A
DefSF

HNF1 homeobox A

5MAGI2
Ref

membrane associated guanylate kinase, WW and PDZ domain containing 2

4SLC7A9
Def

solute carrier family 7 member 9

4UMOD
Def

uromodulin

4SLC3A1
Def

solute carrier family 3 member 1

4DGCR5
4SLC12A1
Def

solute carrier family 12 member 1

4COL4A3
Def

collagen type IV alpha 3 chain

4INS
Def

insulin

4COL4A4
Def

collagen type IV alpha 4 chain

4ALDH5A1
Def

aldehyde dehydrogenase 5 family member A1

4MOCS1
Def

molybdenum cofactor synthesis 1

4AGXT
Def

alanine--glyoxylate aminotransferase

4NPHS1
Def

NPHS1 adhesion molecule, nephrin

4SLC6A19
Def

solute carrier family 6 member 19

4PCDH15
Def

protocadherin related 15

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.