SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GermlineCausalMutation disease ORPHANET
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 Biomarker disease CTD_human
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		0.600 Biomarker disease MGD
CUI: C0025202
Disease: melanoma
melanoma 		0.500 Biomarker disease HPO
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.420 Biomarker disease HPO
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C2673584
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C2673584
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0001916
Disease: Albinism
Albinism 		0.160 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.110 Biomarker disease HPO
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		0.100 Biomarker phenotype HPO
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		0.100 Biomarker phenotype HPO
CUI: C0241165
Disease: Thick skin
Thick skin 		0.100 Biomarker phenotype HPO
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.100 Biomarker disease HPO
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		0.100 Biomarker phenotype HPO
CUI: C1849412
Disease: Macular hypoplasia
Macular hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		0.100 Biomarker phenotype HPO
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		0.100 Biomarker phenotype HPO