A-KINASE ANCHOR PROTEIN 8-LIKE PROTEIN; AKAP8L
AKAP8-LIKE PROTEINHOMOLOGOUS TO AKAP95; HA95NEIGHBOR OF AKAP95; NAKAP95; NAKAPHEL...
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1
NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED A number sign (#) is us...
FGGY CARBOHYDRATE KINASE DOMAIN-CONTAINING PROTEIN; FGGY
FLJ10986HGNC Approved Gene Symbol: FGGYCytogenetic location: 1p32.1 Genomic c...
OROFACIODIGITAL SYNDROME I; OFD1
ORAL-FACIAL-DIGITAL SYNDROME, TYPE IOFDS IPAPILLON-LEAGE AND PSAUME SYNDROME A nu...
SPLENOPORTAL VASCULAR ANOMALIES
Barbagallo Sangiorgi et al. (1965) described 2 families. In 1 family, 2 of 4 brot...
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 13; BMND13
Cytogenetic location: 16q23 Genomic coordinates (GRCh38): 16:74,100,001-84,10...
ERB-B2 RECEPTOR TYROSINE KINASE 4; ERBB4
V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4ONCOGENE ERBB4TYRO...
VCP/p47 COMPLEX-INTERACTING PROTEIN 1; VCPIP1
VCP/p47 COMPLEX-INTERACTING PROTEIN, 135-KD; VCIP135KIAA1850HGNC Approved Gene Sy...
IMMUNODEFICIENCY 29; IMD29
IL12B DEFICIENCY A number sign (#) is used with this entry because immunodeficien...
STIMULATOR OF CHONDROGENESIS 1; SCRG1
SCRAPIE-RESPONSIVE GENE 1HGNC Approved Gene Symbol: SCRG1Cytogenetic location: 4q...
PROLINE/SERINE-RICH COILED-COIL PROTEIN 1; PSRC1
DDA3, MOUSE, HOMOLOG OF; DDA3HGNC Approved Gene Symbol: PSRC1Cytogenetic location...
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32
A number sign (#) is used with this entry because of evidence that combined oxida...
CALCIUM RELEASE-ACTIVATED CALCIUM CHANNEL REGULATOR 2A; CRACR2A
EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 4B; EFCAB4BHGNC Approved Gene S...
MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 3; MAST3
KIAA0561HGNC Approved Gene Symbol: MAST3Cytogenetic location: 19p13.11 Genomi...
TRIMETHYLAMINURIA; TMAU
FISH-ODOR SYNDROME A number sign (#) is used with this entry because of evidence ...
