DisGeNET - a database of gene-disease associations

rs1555206402, HMBS

N. diseases: 26

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Depressive disorder

CUI:	C0011581
Disease:	Depressive disorder

0.700

CausalMutation

CLINVAR

Hypertensive disease

CUI:	C0020538
Disease:	Hypertensive disease

0.700

CausalMutation

CLINVAR

Respiratory Paralysis

CUI:	C0035232
Disease:	Respiratory Paralysis

0.700

CausalMutation

CLINVAR

Inappropriate ADH Syndrome

CUI:	C0021141
Disease:	Inappropriate ADH Syndrome

0.700

CausalMutation

CLINVAR

Decreased liver function

CUI:	C0232744
Disease:	Decreased liver function

0.700

CausalMutation

CLINVAR

Acute episodes of neuropathic symptoms

CUI:	C1867971
Disease:	Acute episodes of neuropathic symptoms

0.700

CausalMutation

CLINVAR

Anxiety

CUI:	C0003467
Disease:	Anxiety

0.700

CausalMutation

CLINVAR

Hypokalemia

CUI:	C0020621
Disease:	Hypokalemia

0.700

CausalMutation

CLINVAR

Dysuria

CUI:	C0013428
Disease:	Dysuria

0.700

CausalMutation

CLINVAR

Brown urine

CUI:	C1142277
Disease:	Brown urine

0.700

CausalMutation

CLINVAR

Constipation

CUI:	C0009806
Disease:	Constipation

0.700

CausalMutation

CLINVAR

Nausea

CUI:	C0027497
Disease:	Nausea

0.700

CausalMutation

CLINVAR

Vomiting

CUI:	C0042963
Disease:	Vomiting

0.700

CausalMutation

CLINVAR

Seizures

CUI:	C0036572
Disease:	Seizures

0.700

CausalMutation

CLINVAR

Hyponatremia

CUI:	C0020625
Disease:	Hyponatremia

0.700

CausalMutation

CLINVAR

Muscle Weakness

CUI:	C0151786
Disease:	Muscle Weakness

0.700

CausalMutation

CLINVAR

Paralytic Ileus

CUI:	C0030446
Disease:	Paralytic Ileus

0.700

CausalMutation

CLINVAR

Acute intermittent porphyria

CUI:	C0162565
Disease:	Acute intermittent porphyria

0.700

CausalMutation

CLINVAR

Tachycardia

CUI:	C0039231
Disease:	Tachycardia

0.700

CausalMutation

CLINVAR

Psychotic episodes

CUI:	C0338614
Disease:	Psychotic episodes

0.700

CausalMutation

CLINVAR

Abdominal Pain

CUI:	C0000737
Disease:	Abdominal Pain

0.700

CausalMutation

CLINVAR

Hyperuricemia

CUI:	C0740394
Disease:	Hyperuricemia

0.700

CausalMutation

CLINVAR

Diarrhea

CUI:	C0011991
Disease:	Diarrhea

0.700

CausalMutation

CLINVAR

Urinary Retention

CUI:	C0080274
Disease:	Urinary Retention

0.700

CausalMutation

CLINVAR

Paresthesia

CUI:	C0030554
Disease:	Paresthesia

0.700

CausalMutation

CLINVAR