Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
PREMATURE OVARIAN FAILURE 7 (disorder)
0.700 Biomarker disease CTD_human
PREMATURE OVARIAN FAILURE 7 (disorder)
0.700 CausalMutation disease CLINVAR
PREMATURE OVARIAN FAILURE 7 (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8
0.700 Biomarker disease CTD_human
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8
0.700 CausalMutation disease CLINVAR
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3
0.700 Biomarker disease CTD_human
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX
0.510 GermlineCausalMutation disease ORPHANET
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
0.500 Biomarker phenotype HPO
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX
0.500 GermlineCausalMutation disease ORPHANET
CUI: C0021364
Disease: Male infertility
Male infertility
0.450 Biomarker phenotype HPO
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
0.410 Biomarker disease CTD_human
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
0.410 Biomarker disease HPO
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis
0.400 Biomarker disease HPO
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
0.400 Biomarker disease HPO
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
0.400 Biomarker group CTD_human
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
0.400 CausalMutation disease CLINVAR
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
0.360 Biomarker disease GENOMICS_ENGLAND
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
0.330 Biomarker disease MGD
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
0.330 Biomarker disease HPO
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
0.200 Biomarker disease MGD
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
0.200 Biomarker disease MGD
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.200 Biomarker disease HPO