Genes associated with “TRQ-CTG3-2”

100 genes found121 ClinVar P/LP variants

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

hover for details

Consider

86 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

Def

13

HJVDef

-

39

-

-

Def

13

-

39

-

-

Def

13

-

39

-

-

Lim

11

-

120

-

-

Lim

11

-

120

-

-

10

-

120

-

-

10

-

39

-

-

10

-

39

-

-

10

-

39

-

-

10

-

39

-

-

10

-

49

-

-

10

-

7

-

-

10

-

13

-

-

Dis

10

-

120

-

-

Dis

10

-

120

-

-

10

-

121

-

-

10

-

39

-

-

10

-

119

-

-

10

-

6

-

-

10

-

39

-

-

10

-

39

-

-

10

-

39

-

-

10

-

121

-

-

10

-

95

-

-

10

-

59

-

-

10

-

7

-

-

10

-

31

-

-

10

-

34

-

-

10

-

41

-

-

10

-

35

-

-

10

-

39

-

-

10

-

35

-

-

10

-

35

-

-

10

-

39

-

-

10

-

39

-

-

10

-

39

-

-

10

-

39

-

-

10

-

30

-

-

10

-

7

-

-

10

-

13

-

-

10

-

68

-

-

10

-

42

-

-

10

-

120

-

-

10

-

39

-

-

10

-

84

-

-

10

-

30

-

-

10

-

7

-

-

10

-

6

-

-

10

-

6

-

-

10

-

7

-

-

10

-

59

-

-

10

-

7

-

-

10

-

7

-

-

10

-

84

-

-

10

-

34

-

-

10

-

39

-

-

10

-

121

-

-

10

-

115

-

-

10

-

13

-

-

10

-

39

-

-

10

-

39

-

-

10

-

39

-

-

10

-

115

-

-

10

-

112

-

-

10

-

111

-

-

10

-

9

-

-

10

-

39

-

-

10

-

13

-

-

10

-

6

-

-

10

-

59

-

-

10

-

30

-

-

10

-

7

-

-

10

-

48

-

-

10

-

7

-

-

10

-

6

-

-

10

-

34

-

-

10

-

121

-

-

10

-

34

-

-

10

-

121

-

-

10

-

113

-

-

10

-

6

-

-

10

-

107

-

-

10

-

6

-

-

10

-

6

-

-

10

-

39

-

-

8

-

3

-

-

Possible

14 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

6

-

2

-

-

6

-

2

-

-

6

-

2

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

4

-

1

-

-

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