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Entry Name Description Category Pathway Gene
H00214 Hypophosphatemic rickets Hypophosphataemic rickets, also known as vitamin D resistant rickets, is a group of genetic disorders characterized by defective reabsorption of inorganic phosphorus by the renal tubules resulting in hypophosphatemia ... Inherited metabolic disorder (XLHR) PHEX [HSA:5251] [KO:K08636]
(XLRH) CLCN5 [HSA:1184] [KO:K05012]
(ADHR) FGF23 [HSA:8074] [KO:K22428]
(ARHR1) DMP1 [HSA:1758] [KO:K23328]
(ARHR2) ENPP1 [HSA:5167] [KO:K01513]
(HHRH) SLC34A3 [HSA:142680] [KO:K14683]
H00409 Type 2 diabetes mellitus Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... Endocrine and metabolic disease hsa04930 Type II diabetes mellitus (T2D1) CAPN10 [HSA:11132] [KO:K08579]
(T2D5) TBC1D4 [HSA:9882] [KO:K17902]
IGF2BP2 [HSA:10644] [KO:K17392]
SLC30A8 [HSA:169026] [KO:K14695]
KCNJ11 [HSA:3767] [KO:K05004]
MTNR1B [HSA:4544] [KO:K04286]
ENPP1 [HSA:5167] [KO:K01513]
PPARG [HSA:5468] [KO:K08530]
HNF1B [HSA:6928] [KO:K08034]
TCF7L2 [HSA:6934] [KO:K04491]
WFS1 [HSA:7466] [KO:K14020]
PAX4 [HSA:5078] [KO:K08032]
HNF1B [HSA:6928] [KO:K08034]
AKT2 [HSA:208] [KO:K04456]
ABCC8 [HSA:6833] [KO:K05032]
GCK [HSA:2645] [KO:K12407]
NEUROD1 [HSA:4760] [KO:K08033]
GPD2 [HSA:2820] [KO:K00111]
IRS1 [HSA:3667] [KO:K16172]
PPP1R3A [HSA:5506] [KO:K07189]
HNF4A [HSA:3172] [KO:K07292]
H00431 Ossification of the posterior longitudinal ligament of spine Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior ... Musculoskeletal disease COL11A2 [HSA:1302] [KO:K19721]
ENPP1 [HSA:5167] [KO:K01513]
COL6A1 [HSA:1291] [KO:K06238]
TGFB3 [HSA:7043] [KO:K13377]
H01002 Generalized arterial calcification of infancy ... arteries, and resultant arterial stenosis. GACI is associated with biallelic inactivating mutations in ENPP1 in about 75% of the cases. ENPP1 generates PPi that inhibits hydroxyapatite crystal growth. Cardiovascular disease (GACI1) ENPP1 [HSA:5167] [KO:K01513]
(GACI2) ABCC6 [HSA:368] [KO:K05669]
H01394 Cole disease ... which are typically found over the arms and legs, but not the trunk or acral regions. Mutations in ENPP1, encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), are associated with Cole ... Congenital malformation ENPP1 [HSA:5167] [KO:K01513]
H02106 Genetic obesity Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important ... Endocrine and metabolic disease NR0B2 [HSA:8431] [KO:K08563]
SDC3 [HSA:9672] [KO:K16337]
GHRL [HSA:51738] [KO:K05254]
PPARG [HSA:5468] [KO:K08530]
CARTPT [HSA:9607] [KO:K25453]
PPARGC1B [HSA:133522] [KO:K17962]
ENPP1 [HSA:5167] [KO:K01513]
ADRB2 [HSA:154] [KO:K04142]
ADRB3 [HSA:155] [KO:K04143]
AGRP [HSA:181] [KO:K05231]
UCP1 (polymorphism) [HSA:7350] [KO:K08769]
UCP3 [HSA:7352] [KO:K15103]
(OBAIRH) POMC [HSA:5443] [KO:K05228]
(BMIQ4) UCP2 [HSA:7351] [KO:K15103]
(BMIQ9) MC3R [HSA:4159] [KO:K04201]
(BMIQ10) FFAR4 [HSA:338557] [KO:K08425]
(BMIQ11) SLC6A14 [HSA:11254] [KO:K05047]
(BMIQ12) PCSK1 [HSA:5122] [KO:K01359]
(BMIQ14) FTO [HSA:79068] [KO:K19469]
(BMIQ17) AQP7 [HSA:364] [KO:K08771]
(BMIQ18) MRAP2 [HSA:112609] [KO:K25968]
(BMIQ19) ADCY3 [HSA:109] [KO:K08043]
(BMIQ20) MC4R [HSA:4160] [KO:K04202]
H02139 Autosomal recessive hypophosphatemic rickets ... and is a key regulatory protein that is required for the normal growth and development of bone, cartilage and dentin. Recently, ARHR associated with a mutation in the ENPP1 gene has also been reported. Inherited metabolic disorder (ARHR1) DMP1 [HSA:1758] [KO:K23328]
(ARHR2) ENPP1 [HSA:5167] [KO:K01513]
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